49 results on '"Lucia Leonardi"'
Search Results
2. Vasculitis and vasculopathy associated with inborn errors of immunity: an overview
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Silvia Federici, Bianca Laura Cinicola, Francesco La Torre, Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Roberta Caorsi, Lucia Leonardi, Stefania Corrente, Annarosa Soresina, Caterina Cancrini, Antonella Insalaco, Marco Gattorno, Fabrizio De Benedetti, Gian Luigi Marseglia, Michele Miraglia Del Giudice, and Fabio Cardinale
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autoinflammatory diseases ,DADA2 ,SAVI ,monogenic lupus ,haploinsufficiency A20 ,vasculopathy ,Pediatrics ,RJ1-570 - Abstract
Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are characterized by unprovoked recurrent flares of systemic inflammation often characterized by fever associated with clinical manifestations mainly involving the musculoskeletal, mucocutaneous, gastrointestinal, and nervous systems. Several conditions also present with varied, sometimes prominent, involvement of the vascular system, with features of vasculitis characterized by variable target vessel involvement and organ damage. Here, we report a systematic review of vasculitis and vasculopathy associated with inborn errors of immunity.
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- 2024
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3. Immunological characterization of an Italian PANDAS cohort
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Lucia Leonardi, Giulia Lorenzetti, Rita Carsetti, Eva Piano Mortari, Cristiana Alessia Guido, Anna Maria Zicari, Elisabeth Förster-Waldl, Lorenzo Loffredo, Marzia Duse, and Alberto Spalice
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PANDAS ,PANS ,GABHS ,TNF-α ,IL-17 ,immune defects ,Pediatrics ,RJ1-570 - Abstract
This cross-sectional study aimed to contribute to the definition of Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) pathophysiology. An extensive immunological assessment has been conducted to investigate both immune defects, potentially leading to recurrent Group A β-hemolytic Streptococcus (GABHS) infections, and immune dysregulation responsible for a systemic inflammatory state. Twenty-six PANDAS patients with relapsing-remitting course of disease and 11 controls with recurrent pharyngotonsillitis were enrolled. Each subject underwent a detailed phenotypic and immunological assessment including cytokine profile. A possible correlation of immunological parameters with clinical-anamnestic data was analyzed. No inborn errors of immunity were detected in either group, using first level immunological assessments. However, a trend toward higher TNF-alpha and IL-17 levels, and lower C3 levels, was detected in the PANDAS patients compared to the control group. Maternal autoimmune diseases were described in 53.3% of PANDAS patients and neuropsychiatric symptoms other than OCD and tics were detected in 76.9% patients. ASO titer did not differ significantly between the two groups. A possible correlation between enduring inflammation (elevated serum TNF-α and IL-17) and the persistence of neuropsychiatric symptoms in PANDAS patients beyond infectious episodes needs to be addressed. Further studies with larger cohorts would be pivotal to better define the role of TNF-α and IL-17 in PANDAS pathophysiology.
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- 2024
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4. Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review
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Elena Sophia Fratini, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Stefania Giannelli, Ilaria Monti, Miriam Casiraghi, Francesca Ferrua, Salvatore Recupero, Giulia Consiglieri, Valeria Calbi, Francesca Tucci, Vera Gallo, Maria Ester Bernardo, Sabina Cenciarelli, Monica Palmoni, Margherita Moni, Luca Galimberti, Marzia Duse, Lucia Leonardi, Elena Sieni, Elena Soncini, Fulvio Porta, Lucia Dora Notarangelo, Raffaella De Santis, Saverio Ladogana, Alessandro Aiuti, and Maria Pia Cicalese
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hemophagocytic inflammatory syndrome ,hemophagocytic lymphohistiocytosis (HLH) ,SCID ,ADA-SCID ,primary immunodeficiency ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Hemophagocytic inflammatory syndrome (HIS) is a rare form of secondary hemophagocytic lymphohistiocytosis caused by an impaired equilibrium between natural killer and cytotoxic T-cell activity, evolving in hypercytokinemia and multiorgan failure. In the context of inborn errors of immunity, HIS occurrence has been reported in severe combined immunodeficiency (SCID) patients, including two cases of adenosine deaminase deficient-SCID (ADA-SCID). Here we describe two additional pediatric cases of ADA-SCID patients who developed HIS. In the first case, HIS was triggered by infectious complications while the patient was on enzyme replacement therapy; the patient was treated with high-dose corticosteroids and intravenous immunoglobulins with HIS remission. However, the patient required HLA-identical sibling donor hematopoietic stem cell transplantation (HSCT) for a definitive cure of ADA-SCID, without HIS relapse up to 13 years after HSCT. The second patient presented HIS 2 years after hematopoietic stem cell gene therapy (GT), secondarily to Varicella-Zoster vaccination and despite CD4+ and CD8+ lymphocytes’ reconstitution in line with other ADA SCID patients treated with GT. The child responded to trilinear immunosuppressive therapy (corticosteroids, Cyclosporine A, Anakinra). We observed the persistence of gene-corrected cells up to 5 years post-GT, without HIS relapse. These new cases of children with HIS, together with those reported in the literature, support the hypothesis that a major dysregulation in the immune system can occur in ADA-SCID patients. Our cases show that early identification of the disease is imperative and that a variable degree of immunosuppression could be an effective treatment while allogeneic HSCT is required only in cases of refractoriness. A deeper knowledge of immunologic patterns contributing to HIS pathogenesis in ADA-SCID patients is desirable, to identify new targeted treatments and ensure patients’ long-term recovery.
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- 2023
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5. Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia
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Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, and Luigi Tarani
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Kabuki syndrome ,Evans syndrome ,autoimmunity ,immunodeficiency ,hypogammaglobulinemia ,immune dysregulation ,Pediatrics ,RJ1-570 - Abstract
Kabuki syndrome (KS) is a rare multisystemic disease due to mutations in the KMT2D or KDM6A genes, which act as epigenetic modulators of different processes, including immune response. The syndrome is characterized by anomalies in multiple organ systems, and it is associated with autoimmune and inflammatory disorders, and an underlying immunological phenotype characterized by immunodeficiency and immune dysregulation. Up to 17% of KS patients present with immune thrombocytopenia characterized by a severe, chronic or relapsing course, and often associated to other hematological autoimmune diseases including autoimmune hemolytic anemia, eventually resulting in Evans syndrome (ES). A 23-year-old woman, clinically diagnosed with KS and presenting from the age of 3 years with ES was referred to the Rare Diseases Centre of our Pediatric Department for corticosteroid-induced hyperglycemia. Several ES relapses and recurrent respiratory infections in the previous years were reported. Severe hypogammaglobulinemia, splenomegaly and signs of chronic lung inflammation were diagnosed only at the time of our observation. Supportive treatment with amoxicillin-clavulanate prophylaxis and recombinant human hyaluronidase-facilitated subcutaneous immunoglobulin replacement were immediately started. In KS patients, the failure of B-cell development and the lack of autoreactive immune cells suppression can lead to immunodeficiency and autoimmunity that may be undiagnosed for a long time. Our patient's case is paradigmatic since she presented with preventable morbidity and severe lung disease years after disease onset. This case emphasizes the importance of suspecting immune dysregulation in KS. Pathogenesis and immunological complications of KS are discussed. Moreover, the need to perform immunologic evaluations is highlighted both at the time of KS diagnosis and during disease follow-up, in order to allow proper treatment while intercepting avoidable morbidity in these patients.
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- 2023
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6. Chilblain-like lesions onset during SARS-CoV-2 infection in a COVID-19-vaccinated adolescent: case report and review of literature
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Roberto Paparella, Luigi Tarani, Enrico Properzi, Francesco Costantino, Chiara Saburri, Roberta Lucibello, Antonio Richetta, Alberto Spalice, and Lucia Leonardi
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COVID-19 ,Chilblain-like lesions ,Case report ,SARS-CoV-2 vaccination ,Children ,Pediatrics ,RJ1-570 - Abstract
Abstract Background COVID toes or chilblain-like skin lesions have been widely reported during COVID-19 pandemic. Most cases were described in patients with negative microbiological tests for SARS-CoV-2, therefore the possible relationship with SARS-CoV-2 infection, as well as with the nowadays broadly available mRNA-based vaccination, has not been fully elucidated. Case presentation We here describe the case of a 14-year-old male who developed chilblain-like skin eruptions during SARS-CoV-2 infection despite two mRNA-based vaccine doses and review the clinical and epidemiological characteristics of chilblain-like lesions as a cutaneous presentation of COVID-19 in children. Conclusions Most children and adolescent with COVID toes have a mild or asymptomatic SARS-CoV-2 infection. Our report aims to highlight the possible onset of these skin lesions in vaccinated children, if infection has occurred, and the potential use of systemic corticosteroids as a first line treatment. Additional evidence is required to better understand SARS-CoV-2 infection and cutaneous manifestations in children and determine the relationship between chilblain-like lesions and COVID-19 vaccination.
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- 2022
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7. Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity
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Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, and Roberta Bulla
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complement component 7 (C7) ,complement system ,primary immunodeficiency ,complement deficiency ,functional hemizygosity ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Primary complement system (C) deficiencies are rare but notably associated with an increased risk of infections, autoimmunity, or immune disorders. Patients with terminal pathway C-deficiency have a 1,000- to 10,000-fold-higher risk of Neisseria meningitidis infections and should be therefore promptly identified to minimize the likelihood of further infections and to favor vaccination. In this paper, we performed a systematic review about clinical and genetic patterns of C7 deficiency starting from the case of a ten-year old boy infected by Neisseria meningitidis B and with clinical presentation suggestive of reduced C activity. Functional assay via Wieslab ELISA Kit confirmed a reduction in total C activity of the classical (0.6% activity), lectin (0.2% activity) and alternative (0.1% activity) pathways. Western blot analysis revealed the absence of C7 in patient serum. Sanger sequencing of genomic DNA extracted from peripheral blood of the patient allowed the identification of two pathogenetic variants in the C7 gene: the already well-characterized missense mutation G379R and a novel heterozygous deletion of three nucleotides located at the 3’UTR (c.*99_*101delTCT). This mutation resulted in an instability of the mRNA; thus, only the allele containing the missense mutation was expressed, making the proband a functional hemizygote for the expression of the mutated C7 allele.
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- 2023
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8. Anti-Inflammatory and Immunomodulatory Effect of High-Dose Immunoglobulins in Children: From Approved Indications to Off-Label Use
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Francesca Conti, Mattia Moratti, Lucia Leonardi, Arianna Catelli, Elisa Bortolamedi, Emanuele Filice, Anna Fetta, Marianna Fabi, Elena Facchini, Maria Elena Cantarini, Angela Miniaci, Duccio Maria Cordelli, Marcello Lanari, Andrea Pession, and Daniele Zama
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anti-inflammatory ,children ,high dose immunoglobulin ,immune dysregulation ,immunomodulation ,immunomodulatory ,Cytology ,QH573-671 - Abstract
Background: The large-scale utilization of immunoglobulins in patients with inborn errors of immunity (IEIs) since 1952 prompted the discovery of their key role at high doses as immunomodulatory and anti-inflammatory therapy, in the treatment of IEI-related immune dysregulation disorders, according to labelled and off-label indications. Recent years have been dominated by a progressive imbalance between the gradual but constant increase in the use of immunoglobulins and their availability, exacerbated by the SARS-CoV-2 pandemic. Objectives: To provide pragmatic indications for a need-based application of high-dose immunoglobulins in the pediatric context. Sources: A literature search was performed using PubMed, from inception until 1st August 2023, including the following keywords: anti-inflammatory; children; high dose gammaglobulin; high dose immunoglobulin; immune dysregulation; immunomodulation; immunomodulatory; inflammation; intravenous gammaglobulin; intravenous immunoglobulin; off-label; pediatric; subcutaneous gammaglobulin; subcutaneous immunoglobulin. All article types were considered. Implications: In the light of the current imbalance between gammaglobulins’ demand and availability, this review advocates the urgency of a more conscious utilization of this medical product, giving indications about benefits, risks, cost-effectiveness, and administration routes of high-dose immunoglobulins in children with hematologic, neurologic, and inflammatory immune dysregulation disorders, prompting further research towards a responsible employment of gammaglobulins and improving the therapeutical decisional process.
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- 2023
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9. Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases
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Marzia Duse, Francesca Santamaria, Maria Carmen Verga, Marcello Bergamini, Giovanni Simeone, Lucia Leonardi, Giovanna Tezza, Annamaria Bianchi, Annalisa Capuano, Fabio Cardinale, Giovanni Cerimoniale, Massimo Landi, Monica Malventano, Mariangela Tosca, Attilio Varricchio, Anna Maria Zicari, Carlo Alfaro, Salvatore Barberi, Paolo Becherucci, Roberto Bernardini, Paolo Biasci, Carlo Caffarelli, Valeria Caldarelli, Carlo Capristo, Serenella Castronuovo, Elena Chiappini, Renato Cutrera, Giovanna De Castro, Luca De Franciscis, Fabio Decimo, Iride Dello Iacono, Lucia Diaferio, Maria Elisa Di Cicco, Caterina Di Mauro, Cristina Di Mauro, Dora Di Mauro, Francesco Di Mauro, Gabriella Di Mauro, Mattia Doria, Raffaele Falsaperla, Valentina Ferraro, Vassilios Fanos, Elena Galli, Daniele Giovanni Ghiglioni, Luciana Indinnimeo, Ahmad Kantar, Adima Lamborghini, Amelia Licari, Riccardo Lubrano, Stefano Luciani, Francesco Macrì, Gianluigi Marseglia, Alberto Giuseppe Martelli, Luigi Masini, Fabio Midulla, Domenico Minasi, Vito Leonardo Miniello, Michele Miraglia del Giudice, Sergio Renzo Morandini, Germana Nardini, Agostino Nocerino, Elio Novembre, Giovanni Battista Pajno, Francesco Paravati, Giorgio Piacentini, Cristina Piersantelli, Gabriella Pozzobon, Giampaolo Ricci, Valter Spanevello, Renato Turra, Stefania Zanconato, Melissa Borrelli, Alberto Villani, Giovanni Corsello, Giuseppe Di Mauro, and Diego Peroni
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Inhaled corticosteroids ,Asthma ,Wheezing ,Rhinitis ,Rhinosinusitis ,Laryngospasm ,Pediatrics ,RJ1-570 - Abstract
Abstract Background In 2019, a multidisciplinary panel of experts from eight Italian scientific paediatric societies developed a consensus document for the use of inhaled corticosteroids in the management and prevention of the most common paediatric airways disorders. The aim is to provide healthcare providers with a multidisciplinary document including indications useful in the clinical practice. The consensus document was intended to be addressed to paediatricians who work in the Paediatric Divisions, the Primary Care Services and the Emergency Departments, as well as to Residents or PhD students, paediatric nurses and specialists or consultants in paediatric pulmonology, allergy, infectious diseases, and ear, nose, and throat medicine. Methods Clinical questions identifying Population, Intervention(s), Comparison and Outcome(s) were addressed by methodologists and a general agreement on the topics and the strength of the recommendations (according to the GRADE system) was obtained following the Delphi method. The literature selection included secondary sources such as evidence-based guidelines and systematic reviews and was integrated with primary studies subsequently published. Results The expert panel provided a number of recommendations on the use of inhaled corticosteroids in preschool wheezing, bronchial asthma, allergic and non-allergic rhinitis, acute and chronic rhinosinusitis, adenoid hypertrophy, laryngitis and laryngospasm. Conclusions We provided a multidisciplinary update on the current recommendations for the management and prevention of the most common paediatric airways disorders requiring inhaled corticosteroids, in order to share useful indications, identify gaps in knowledge and drive future research.
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- 2021
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10. Autoimmune Polyendocrine Syndromes in the Pediatric Age
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Roberto Paparella, Michela Menghi, Ginevra Micangeli, Lucia Leonardi, Giovanni Profeta, Francesca Tarani, Carla Petrella, Giampiero Ferraguti, Marco Fiore, and Luigi Tarani
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autoimmune ,polyendocrinopathy ,polyglandular ,immunodeficiency ,pediatrics ,children ,Pediatrics ,RJ1-570 - Abstract
Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions.
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- 2023
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11. Efficacy of Pidotimod use in treating allergic rhinitis in a pediatric population
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Giulia Brindisi, Anna Maria Zicari, Laura Schiavi, Alessandra Gori, Maria Pia Conte, Massimiliano Marazzato, Giovanna De Castro, Lucia Leonardi, and Marzia Duse
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Pidotimod ,Microbiota ,Rhinomanometry ,Nasal obstruction ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Allergic rhinitis (AR) and adenoidal hypertrophy (AH) are the most frequent causative disorders of nasal obstruction in children, leading to recurrent respiratory infections. Both nasal cavities are colonized by a stable microbial community susceptible to environmental changes and Staphylococcus aureus seems to play the major role. Furthermore, nasal microbiota holds a large number and variety of viruses with upper respiratory tract infections. This local microbiota deserves attention because its modification could induce a virtuous cross-talking with the immune system, with a better clearance of pathogens. Although AR and AH present a different etiopathogenesis, they have in common a minimal chronic inflammation surrounding nasal obstruction; hence it would be challenging to evaluate the effect of an immunomodulator on this minimal chronic inflammation with possible clinical and microbiological effects. The aim of this study is therefore to evaluate the efficacy of an immunomoldulator (Pidotimod) on nasal obstruction in children with AR and/or AH and whether its action involves a variation of nasal microbiota. Methods We enrolled 76 children: those with allergic rhinitis (AR) sensitized to dust mites entered the AR group, those with adenoidal hypertrophy (AH) the AH group, those with both conditions the AR/AH group and those without AR ± AH as controls (CTRL). At the first visit they performed: skin prick tests, nasal fiberoptic endoscopy, anterior rhinomanometry, nasal swabs. Children with. AR ± AH started treatment with Pidotimod. After 1 month they were re-evaluated performing the same procedures. The primary outcome was the evaluation of nasal obstruction after treatment and the secondary outcome was the improvement of symptoms and the changes in nasal microflora. Results All patients improved their mean nasal flow (mNF) in respect to the baseline. In AR children mNF reached that one of CTRL. In AH children±AR the mNF was lower in respect to CTRL and AR group. We did not find any differences among all the groups at the two different time points in nasal microflora. Conclusions Pidotimod is able to give an improvement in nasal obstruction, especially in AR children but this effect seems to be not mediated by changes in nasal microbiota.
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- 2020
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12. Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient
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Francesca Conti, Arianna Catelli, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, and Andrea Pession
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lymphoma ,refractory SLE ,immunodeficiency ,PIK3R1 ,PI3K signaling ,APDS2 ,Pediatrics ,RJ1-570 - Published
- 2021
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13. Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient
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Francesca Conti, Arianna Catelli, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, and Andrea Pession
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lymphoma ,refractory SLE ,immunodeficiency ,PIK3R1 ,PI3K signaling ,APDS2 ,Pediatrics ,RJ1-570 - Abstract
Introduction: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is a rare primary immune regulatory disorder caused by heterozygous gain of function mutation in the PIK3R1 gene encoding PI3Kδ regulatory p85α subunit and resulting in PI3Kδ hyperactivation. Clinical features range from recurrent infections to manifestations of immune dysregulation like autoimmunity, inflammation, systemic lymphoproliferation, and increased risk of cancer. We describe a new dominant PIK3R1 mutation causing APDS2 presenting with lymphoma and systemic refractory autoimmunity.Case Presentation: A 30-year-old woman was referred to the Immunology Unit of our hospital for uncontrolled systemic lupus erythematosus, including chilblains lesions, systemic lymphoproliferation and IgA deficiency. At 19 years of age, she was diagnosed with Hodgkin's lymphoma. Subsequently, she presented systemic lupus erythematosus onset, with episodes of severe exacerbation, including autoimmune hemolytic anemia and pleuro-pericarditis. Initial clinical response to conventional treatments was reported. Immunological investigations performed during our first observation showed severe lymphopenia, IgA deficiency, elevated IgM with reduced IgG2 levels, and low vaccination antibody titers. Quantitative real-time polymerase chain reaction (PCR) assay for Cytomegalovirus and Epstein-Barr virus showed low viral loads for both viruses in serum. An increase of serum inflammatory markers highlighted persistent systemic hyperinflammation. The next-generation sequencing (NGS)-based gene panel tests for primary immunodeficiency showed a heterozygous A>G substitution in the splice acceptor site at c.1300-2 position of PIK3R1, leading to exon-skipping.Conclusion: This case emphasizes the importance of suspecting primary immune regulatory disorders in young adults, predominantly showing a severe, aggressive, and refractory to treatment immune dysregulation phenotype, even in the absence of major infectious diseases at the onset. Different treatments can be promptly started, and a delayed diagnosis can highly impact the outcome. Targeted therapy against PI3Kδ pathway defect effectively improves drug-resistant autoimmunity, lymphoproliferation, and risk of progression to malignancy; eligible patients could benefit from its use even as a bridge therapy to transplantation, currently the only definitive curative treatment. Therefore, identifying genetic mutation and prompt targeted treatment are essential to control disease manifestations, prevent long-term sequelae, and enable curative HSCT in APDS2 patients.
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- 2021
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14. Correction: Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases
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Marzia Duse, Francesca Santamaria, Maria Carmen Verga, Marcello Bergamini, Giovanni Simeone, Lucia Leonardi, Giovanna Tezza, Annamaria Bianchi, Annalisa Capuano, Fabio Cardinale, Giovanni Cerimoniale, Massimo Landi, Monica Malventano, Mariangela Tosca, Attilio Varricchio, Anna Maria Zicari, Carlo Alfaro, Salvatore Barberi, Paolo Becherucci, Roberto Bernardini, Paolo Biasci, Carlo Caffarelli, Valeria Caldarelli, Carlo Capristo, Serenella Castronuovo, Elena Chiappini, Renato Cutrera, Giovanna De Castro, Luca De Franciscis, Fabio Decimo, Iride Dello Iacono, Lucia Diaferio, Maria Elisa Di Cicco, Caterina Di Mauro, Cristina Di Mauro, Dora Di Mauro, Francesco Di Mauro, Gabriella Di Mauro, Mattia Doria, Raffaele Falsaperla, Valentina Ferraro, Vassilios Fanos, Elena Galli, Daniele Giovanni Ghiglioni, Luciana Indinnimeo, Ahmad Kantar, Adima Lamborghini, Amelia Licari, Riccardo Lubrano, Stefano Luciani, Francesco Macrì, Gianluigi Marseglia, Alberto Giuseppe Martelli, Luigi Masini, Fabio Midulla, Domenico Minasi, Vito Leonardo Miniello, Michele Miraglia Del Giudice, Sergio Renzo Morandini, Germana Nardini, Agostino Nocerino, Elio Novembre, Giovanni Battista Pajno, Francesco Paravati, Giorgio Piacentini, Cristina Piersantelli, Gabriella Pozzobon, Giampaolo Ricci, Valter Spanevello, Renato Turra, Stefania Zanconato, Melissa Borrelli, Alberto Villani, Giovanni Corsello, Giuseppe Di Mauro, and Diego Peroni
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Pediatrics ,RJ1-570 - Published
- 2022
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15. Inborn errors of immunity with atopic phenotypes: A practical guide for allergists
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Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Lucia Leonardi, Francesco La Torre, Silvia Federici, Stefania Corrente, Bianca Laura Cinicola, Annarosa Soresina, Caterina Cancrini, Gian Luigi Marseglia, and Fabio Cardinale
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Inborn errors of immunity ,Primary immunodeficiency ,Atopy ,Atopic phenotypes ,Allergy ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Inborn errors of immunity (IEI) are a heterogeneous group of disorders, mainly resulting from mutations in genes associated with immunoregulation and immune host defense. These disorders are characterized by different combinations of recurrent infections, autoimmunity, inflammatory manifestations, lymphoproliferation, and malignancy. Interestingly, it has been increasingly observed that common allergic symptoms also can represent the expression of an underlying immunodeficiency and/or immune dysregulation.Very high IgE levels, peripheral or organ-specific hypereosinophilia, usually combined with a variety of atopic symptoms, may sometimes be the epiphenomenon of a monogenic disease. Therefore, allergists should be aware that severe and/or therapy-resistant atopic disorders might be the main clinical phenotype of some IEI. This could pave the way to target therapies, leading to better quality of life and improved survival in affected patients.
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- 2021
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16. Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis
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Bianca Cinicola, Andrea Uva, Lucia Leonardi, Daniele Moratto, Silvia Giliani, Rita Carsetti, Simona Ferrari, Anna Maria Zicari, and Marzia Duse
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X-linked Agammaglobulinemia ,BTK gene ,protein expression ,mild phenotype ,IgE production ,allergy ,Immunologic diseases. Allergy ,RC581-607 - Abstract
X-linked Agammaglobulinemia (XLA) is a rare genetic disorder of B-lymphocyte differentiation, characterized by the absence or paucity of circulating B cells, markedly reduced levels of all serum immunoglobulin isotypes and lack of specific antibody production. Bruton Tyrosine Kinase (BTK) gene encodes a cytoplasmic tyrosine kinase involved in the B cell maturation and its mutation, blocking B cell differentiation at the pre-B cell stage, and is responsible for XLA. All domains may be affected by the mutation, and the many genotypes are associated with a wide range of clinical presentations. Little is known about genotype-phenotype correlation in this disorder, and factors influencing the phenotype of XLA are not clearly understood. In this report we present a unique case of a young patient affected by XLA. The disease was genetically diagnosed at birth due to a family history of XLA, but during follow up, it was characterized by a CD19+ B cell percentage consistently greater than 2%. He never suffered severe infections, but at two years of age, he developed persistent rhinitis. Thus, total serum IgE levels were measured and detected over the normal range, and specific allergic investigations showed sensitization to dust mites. Further immunological tests (BTK expression, functional “in vitro” B cell proliferation upon CpG stimulation, B cell subset analysis) explained these findings as possible manifestations of a mild XLA phenotype. XLA patients rarely present with allergic manifestations, which could warrant further investigation. High serum IgE levels could be a sign of a mild phenotype, but their role and the mechanisms underlying their production in XLA need to be clarified.
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- 2020
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17. Host Defenses to Viruses: Lessons from Inborn Errors of Immunity
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Lucia Leonardi, Beatrice Rivalta, Fabrizio Leone, Caterina Cancrini, Carlo Caffarelli, Gian Luigi Marseglia, and Fabio Cardinale
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viruses ,host ,immunity ,genetic ,susceptibility ,EBV ,Medicine (General) ,R5-920 - Abstract
The constant battle between viruses and their hosts leads to their reciprocal evolution. Viruses regularly develop survival strategies against host immunity, while their ability to replicate and disseminate is countered by the antiviral defense mechanisms that host mount. Although most viral infections are generally controlled by the host’s immune system, some viruses do cause overt damage to the host. The outcome can vary widely depending on the properties of the infecting virus and the circumstances of infection but also depends on several factors controlled by the host, including host genetic susceptibility to viral infections. In this narrative review, we provide a brief overview of host immunity to viruses and immune-evasion strategies developed by viruses. Moreover, we focus on inborn errors of immunity, these being considered a model for studying host response mechanisms to viruses. We finally report exemplary inborn errors of both the innate and adaptive immune systems that highlight the role of proteins involved in the control of viral infections.
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- 2022
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18. Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype
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Lucia Leonardi, Giulia Lorenzetti, Rita Carsetti, Simona Ferrari, Alessia Di Felice, Bianca Cinicola, and Marzia Duse
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CVID phenotype ,TNFRSF13B ,C193X ,RAG1 ,LIG1 ,Pediatrics ,RJ1-570 - Abstract
Common variable immunodeficiency (CVID) is the most common and clinically relevant primary immunodeficiency (PID). Genetic basis of CVID remains largely unknown. However, in a minority of CVID patients, a number of distinct genetic defects affecting the normal processes of B cell maturation and differentiation into memory B cells have now been identified, resulting in markedly reduced serum levels of immunoglobulin G (IgG) and low immunoglobulin A (IgA) or immunoglobulin M (IgM), with impaired antibody responses, despite the presence of normal levels of B cells. Patients with CVID develop recurrent and chronic infections of respiratory and gastrointestinal tracts, autoimmune diseases, lymphoproliferative complications, malignancies, and granulomatous disease. We report the case of a boy admitted to our unit for the first time at the age of three for reduced gamma globulin levels and a clinical history positive for two episodes of pneumonia. Our patient incompletely met ESID diagnostic criteria for CVID, but molecular genetic analysis, a NGS panel including 47 PID-associated genes was performed in the proband and in his parents, revealing the presence of a heterozygous nucleotide substitution in exon 4 (c.579C>A) of TNFRSF13B encoding TACI. This mutation has been described only in two CVID adult patients and in a child with selective IgA deficiency (sIgAD). We highlighted the same mutation in the asymptomatic mother and detected two extra heterozygous mutations of RIG1 and LIG1. We promptly started intravenous immunoglobulin (IVIG) therapy with good tolerance. Despite the diagnosis of CVID remains clinical, in this case report we underline the importance of considering and planning genetic workup in all subjects with unclear diagnosis and of reporting new molecular diagnosis especially in case of rare mutations.
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- 2019
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19. Polychlorinated biphenyl serum levels, thyroid hormones and endocrine and metabolic diseases in people living in a highly polluted area in North Italy: A population-based study
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Claudia Zani, Michele Magoni, Fabrizio Speziani, Lucia Leonardi, Grazia Orizio, Carmelo Scarcella, Alice Gaia, and Francesco Donato
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Environmental science ,Public health ,Metabolism ,Metabolic Disorder ,Thyroid Disorder ,Polychlorinated biphenyls ,Science (General) ,Q1-390 ,Social sciences (General) ,H1-99 - Abstract
Polychlorinated biphenyls (PCBs) are persistent organic pollutants produced until the 1980s, which they are still present worldwide. They have been associated with metabolic and endocrine diseases and hypertension in humans, but definite evidence is lacking. A chemical factory producing PCBs caused a heavy pollution in an urban area in Northern Italy. We aimed to evaluate present PCBs serum levels according to demographic and lifestyle variables and their associations with endocrine and metabolic diseases and hypertension in the resident general population. A random sample of 816 adults aged 20–79 years (mean ± SD: 49.1 ± 16.5 years) was enrolled in a cross-sectional population-based study. The participants provided a fasting blood sample for laboratory analysis and were face-to-face interviewed about the presence of chronic diseases. The serum level of total PCBs was computed as the sum of 33 PCB congeners. The median serum level of lipid-adjusted total PCBs was 435.2 and 95th centile was 2154.9 ng/g lipid. Medium and high chlorinated PCBs with immunotoxic and endocrine disrupting activity contributed most to total PCB serum levels, particularly PCBs 138, 153, 170, 180 and 194. The serum levels of total PCBs and of PCB functional groups were positively associated with age and negatively with female gender, education, smoking habit and BMI, and not associated with serum levels of thyroid hormones and TSH and glycaemia and with presence of endocrine diseases, diabetes and hypertension by multivariable analysis. Subgroup analyses according to gender, age and BMI provided similar results. In conclusion, this study shows a long-term persistence of past exposure to PCBs and does not support the hypothesis of an association between PCB exposure and prevalence of endocrine and metabolic diseases and hypertension.
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- 2019
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20. Nutritional Assessment of Baby Food Available in Italy
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Angelo Antignani, Ruggiero Francavilla, Andrea Vania, Lucia Leonardi, Cristina Di Mauro, Giovanna Tezza, Fernanda Cristofori, Vanessa Dargenio, Immacolata Scotese, Filomena Palma, and Margherita Caroli
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Dietary Fiber ,Nutrition and Dietetics ,Iron ,Sodium ,Infant ,Dietary Fats ,complementary feeding ,weaning ,commercial baby food ,nutritional composition ,macronutrients ,fiber ,micronutrients ,Nutrition Assessment ,Humans ,Calcium ,Infant Food ,Micronutrients ,Child ,Infant Nutritional Physiological Phenomena ,Sugars ,Nutritive Value ,Food Science - Abstract
Adequate complementary feeding practices are important for short- and long-term child health. In industrialized countries, the formulation of several commercial baby foods (CBFs) and an increase in their consumption has been noticed. Aim: To update and analyze the nutritional composition of CBFs available in the Italian market. Methods: Data collection carried out in two steps (July 2018–January 2019) and updated in May–September 2021. The information on CBFs was taken from the websites of the major CBF producers available in Italy. The collected information were: Suggested initial and final age of consumption; Ingredients; Energy value; Macronutrients (protein, lipids, and carbohydrates); Fiber; Micronutrients (sodium, iron, and calcium); Presence of salt and added sugars, flavorings, and other additives. Results: Time-space for which CBFs are recommended starts too early and ends too late; protein content is adequate and even too high in some food; Amount of fats and their quality must be improved, keeping the intake of saturated fats low; Sugar content is too high in too many CBFs and salt is unnecessarily present in some of them. Finally, the texture of too many products is purée, and its use is recommended for too long, hindering the development of infants’ chewing abilities.
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- 2022
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21. Do Vegetarian Diets Provide Adequate Nutrient Intake during Complementary Feeding? A Systematic Review
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Giovanni Simeone, Marcello Bergamini, Maria Carmen Verga, Barbara Cuomo, Giuseppe D’Antonio, Iride Dello Iacono, Dora Di Mauro, Francesco Di Mauro, Giuseppe Di Mauro, Lucia Leonardi, Vito Leonardo Miniello, Filomena Palma, Immacolata Scotese, Giovanna Tezza, Andrea Vania, and Margherita Caroli
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Diet, Vegan ,Eating ,Nutrition and Dietetics ,Diet, Vegetarian ,Malnutrition ,Animals ,Humans ,Infant ,Infant Nutritional Physiological Phenomena ,Food Science ,Vegetarians - Abstract
During the complementary feeding period, any nutritional deficiencies may negatively impact infant growth and neurodevelopment. A healthy diet containing all essential nutrients is strongly recommended by the WHO during infancy. Because vegetarian diets are becoming increasingly popular in many industrialized countries, some parents ask the pediatrician for a vegetarian diet, partially or entirely free of animal-source foods, for their children from an early age. This systematic review aims to evaluate the evidence on how vegetarian complementary feeding impacts infant growth, neurodevelopment, risk of wasted and/or stunted growth, overweight and obesity. The SR was registered with PROSPERO 2021 (CRD 42021273592). A comprehensive search strategy was adopted to search and find all relevant studies. For ethical reasons, there are no interventional studies assessing the impact of non-supplemented vegetarian/vegan diets on the physical and neurocognitive development of children, but there are numerous studies that have analyzed the effects of dietary deficiencies on individual nutrients. Based on current evidence, vegetarian and vegan diets during the complementary feeding period have not been shown to be safe, and the current best evidence suggests that the risk of critical micronutrient deficiencies or insufficiencies and growth retardation is high: they may result in significantly different outcomes in neuropsychological development and growth when compared with a healthy omnivorous diet such as the Mediterranean Diet. There are also no data documenting the protective effect of vegetarian or vegan diets against communicable diseases in children aged 6 months to 2–3 years.
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- 2022
22. Complementary Feeding Caregivers' Practices and Growth, Risk of Overweight/Obesity, and Other Non-Communicable Diseases: A Systematic Review and Meta-Analysis
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Marcello Bergamini, Giovanni Simeone, Maria Carmen Verga, Mattia Doria, Barbara Cuomo, Giuseppe D’Antonio, Iride Dello Iacono, Giuseppe Di Mauro, Lucia Leonardi, Vito Leonardo Miniello, Filomena Palma, Immacolata Scotese, Giovanna Tezza, Margherita Caroli, and Andrea Vania
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Nutrition and Dietetics ,Infant ,Feeding Behavior ,Dental Caries ,Overweight ,Weight Gain ,Airway Obstruction ,Caregivers ,Diabetes Mellitus, Type 2 ,Hypertension ,Humans ,Obesity ,Child ,Infant Nutritional Physiological Phenomena ,Noncommunicable Diseases ,Food Science - Abstract
Several institutions propose responsive feeding (RF) as the caregivers’ relational standard when nurturing a child, from breast/formula feeding onwards. Previous systematic reviews (SRs) on caregivers’ feeding practices (CFPs) have included studies on populations from countries with different cultures, rates of malnutrition, and incomes, whereas this SR compares different CFPs only in healthy children (4–24 months) from industrialized countries. Clinical questions were about the influence of different CFPs on several important outcomes, namely growth, overweight/obesity, risk of choking, dental caries, type 2 diabetes (DM2), and hypertension. The literature review does not support any Baby Led Weaning’s or Baby-Led Introduction to SolidS’ (BLISS) positive influence on children’s weight–length gain, nor their preventive effect on future overweight/obesity. RF-CFPs can result in adequate weight gain and a lower incidence of overweight/obesity during the first two years of life, whereas restrictive styles and coercive styles, two kinds of non-RF in CF, can have a negative effect, favoring excess weight and lower weight, respectively. Choking risk: failure to supervise a child’s meals by an adult represents the most important risk factor; no cause–effect relation between BLW/BLISS/RF/NRCF and choking could be found. Risks of DM2, hypertension, and caries: different CFPs cannot be considered as a risky or preventive factor for developing these conditions later in life.
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- 2022
23. Recommendations on Complementary Feeding as a Tool for Prevention of Non-Communicable Diseases (NCDs)—Paper Co-Drafted by the SIPPS, FIMP, SIDOHaD, and SINUPE Joint Working Group
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Margherita Caroli, Andrea Vania, Maria Carmen Verga, Giuseppe Di Mauro, Marcello Bergamini, Barbara Cuomo, Rosaria D’Anna, Giuseppe D’Antonio, Iride Dello Iacono, Angelica Dessì, Mattia Doria, Vassilios Fanos, Michele Fiore, Ruggiero Francavilla, Simonetta Genovesi, Marco Giussani, Antonella Gritti, Dario Iafusco, Lucia Leonardi, Vito Leonardo Miniello, Emanuele Miraglia Del Giudice, Filomena Palma, Francesco Pastore, Immacolata Scotese, Giovanni Simeone, Marco Squicciarini, Giovanna Tezza, Ersilia Troiano, Giuseppina Rosa Umano, Caroli, M., Vania, A., Verga, M. C., Di Mauro, G., Bergamini, M., Cuomo, B., D'Anna, R., D'Antonio, G., Iacono, I. D., Dessi, A., Doria, M., Fanos, V., Fiore, M., Francavilla, R., Genovesi, S., Giussani, M., Gritti, A., Iafusco, D., Leonardi, L., Miniello, V. L., Del Giudice, E. M., Palma, F., Pastore, F., Scotese, I., Simeone, G., Squicciarini, M., Tezza, G., Troiano, E., Umano, G. R., Caroli, M, Vania, A, Verga, M, Di Mauro, G, Bergamini, M, Cuomo, B, D'Anna, R, D'Antonio, G, Iacono, I, Dessi, A, Doria, M, Fanos, V, Fiore, M, Francavilla, R, Genovesi, S, Giussani, M, Gritti, A, Iafusco, D, Leonardi, L, Miniello, V, Del Giudice, E, Palma, F, Pastore, F, Scotese, I, Simeone, G, Squicciarini, M, Tezza, G, Troiano, E, and Umano, G
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BLW ,Delphi Technique ,Cow milk ,BLISS ,Complementary feeding ,Early nutrition ,Food allergy ,Dietary Carbohydrates ,Humans ,TX341-641 ,Infant Nutritional Physiological Phenomena ,Noncommunicable Diseases ,Societies, Medical ,Nutrition and Dietetics ,Responsive feeding ,Nutrition. Foods and food supply ,Prevention ,Human milk ,Infant ,Concept Paper ,Recommendation ,Dietary Fats ,Breast Feeding ,Italy ,Dietary Proteins ,Food Science - Abstract
Adequate and balanced nutrition is essential to promote optimal child growth and a long and healthy life. After breastfeeding, the second step is the introduction of complementary feeding (CF), a process that typically covers the period from 6 to 24 months of age. This process is, however, still highly controversial, as it is heavily influenced by socio-cultural choices, as well as by the availability of specific local foods, by family traditions, and pediatrician beliefs. The Società Italiana di Pediatria Preventiva e Sociale (SIPPS) together with the Federazione Italiana Medici Pediatri (FIMP), the Società Italiana per lo Sviluppo e le Origine della Salute e delle Malattie (SIDOHaD), and the Società Italiana di Nutrizione Pediatrica (SINUPE) have developed evidence-based recommendations for CF, given the importance of nutrition in the first 1000 days of life in influencing even long-term health outcomes. This paper includes 38 recommendations, all of them strictly evidence-based and overall addressed to developed countries. The recommendations in question cover several topics such as the appropriate age for the introduction of CF, the most appropriate quantitative and qualitative modalities to be chosen, and the relationship between CF and the development of Non-Communicable Diseases (NCDs) later in life.
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- 2022
24. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
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Emilia Cirillo, Agata Polizzi, Annarosa Soresina, Rosaria Prencipe, Giuliana Giardino, Caterina Cancrini, Andrea Finocchi, Beatrice Rivalta, Rosa M. Dellepiane, Lucia A. Baselli, Davide Montin, Antonino Trizzino, Rita Consolini, Chiara Azzari, Silvia Ricci, Lorenzo Lodi, Isabella Quinti, Cinzia Milito, Lucia Leonardi, Marzia Duse, Maria Carrabba, Giovanna Fabio, Patrizia Bertolini, Paola Coccia, Irene D’Alba, Andrea Pession, Francesca Conti, Marco Zecca, Claudio Lunardi, Manuela Lo Bianco, Santiago Presti, Laura Sciuto, Roberto Micheli, Dario Bruzzese, Vassilios Lougaris, Raffaele Badolato, Alessandro Plebani, Luciana Chessa, Claudio Pignata, Cirillo, E., Polizzi, A., Soresina, A., Prencipe, R., Giardino, G., Cancrini, C., Finocchi, A., Rivalta, B., Dellepiane, R. M., Baselli, L. A., 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, M. L., Presti, S., Sciuto, L., Micheli, R., Bruzzese, D., Lougaris, V., Badolato, R., Plebani, A., Chessa, L., and Pignata, C.
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B lymphocyte ,T-Lymphocytes ,genotype ,Immunology ,T lymphocytes ,Ataxia Telangiectasia Mutated Proteins ,lymphopenia ,primary immunodeficiency ,Settore MED/02 ,Mutation ,Humans ,Ataxia telangiectasia ,B lymphocytes ,Immunology and Allergy ,Retrospective Studies - 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.
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- 2022
25. Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases
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Vassilios Fanos, Fabio Cardinale, Salvatore Barberi, Alberto Villani, Carlo Caffarelli, Giovanni Simeone, Elena Chiappini, Roberto Bernardini, Monica Malventano, Luca De Franciscis, Annalisa Capuano, Stefano Luciani, Renato Turra, Stefania Zanconato, Domenico Minasi, Paolo Becherucci, Annamaria Bianchi, Marzia Duse, Paolo Biasci, Marcello Bergamini, Francesca Santamaria, Giuseppe Di Mauro, Serenella Castronuovo, Adima Lamborghini, Gian Luigi Marseglia, Francesco Paravati, Giovanni Battista Pajno, Alberto Martelli, Elio Novembre, Gabriella Di Mauro, Francesco Macrì, Giorgio Piacentini, Maria Carmen Verga, Giovanna Tezza, Iride Dello Iacono, Lucia Leonardi, Mattia Doria, Michele Miraglia Del Giudice, Giovanna De Castro, Raffaele Falsaperla, Luciana Indinnimeo, Riccardo Lubrano, Valentina Ferraro, Renato Cutrera, Lucia Diaferio, Vito Leonardo Miniello, Giampaolo Ricci, Melissa Borrelli, Gabriella Pozzobon, Agostino Nocerino, Germana Nardini, Francesco Di Mauro, Fabio Decimo, Anna Maria Zicari, Diego Peroni, Mariangela Tosca, Maria Di Cicco, Fabio Midulla, Luigi Masini, Amelia Licari, Carlo Alfaro, Valeria Caldarelli, Caterina Di Mauro, Elena Galli, Carlo Capristo, Cristina Piersantelli, Sergio Renzo Morandini, Massimo Landi, Giovanni Cerimoniale, Valter Spanevello, Daniele Giovanni Ghiglioni, Ahmad Kantar, Dora Di Mauro, Cristina Di Mauro, Giovanni Corsello, Attilio Varricchio, Duse, M., Santamaria, F., Verga, M. C., Bergamini, M., Simeone, G., Leonardi, L., Tezza, G., Bianchi, A., Capuano, A., Cardinale, F., Cerimoniale, G., Landi, M., Malventano, M., Tosca, M., Varricchio, A., Zicari, A. M., Alfaro, C., Barberi, S., Becherucci, P., Bernardini, R., Biasci, P., Caffarelli, C., Caldarelli, V., Capristo, C., Castronuovo, S., Chiappini, E., Cutrera, R., De Castro, G., De Franciscis, L., Decimo, F., Iacono, I. D., Diaferio, L., Di Cicco, M. E., Di Mauro, C., Di Mauro, D., Di Mauro, F., Di Mauro, G., Doria, M., Falsaperla, R., Ferraro, V., Fanos, V., Galli, E., Ghiglioni, D. G., Indinnimeo, L., Kantar, A., Lamborghini, A., Licari, A., Lubrano, R., Luciani, S., Macri, F., Marseglia, G., Martelli, A. G., Masini, L., Midulla, F., Minasi, D., Miniello, V. L., del Giudice, M. M., Morandini, S. R., Nardini, G., Nocerino, A., Novembre, E., Pajno, G. B., Paravati, F., Piacentini, G., Piersantelli, C., Pozzobon, G., Ricci, G., Spanevello, V., Turra, R., Zanconato, S., Borrelli, M., Villani, A., Corsello, G., Peroni, D., Duse, Marzia, Santamaria, Francesca, Verga, Maria Carmen, Bergamini, Marcello, Simeone, Giovanni, Leonardi, Lucia, Tezza, Giovanna, Bianchi, Annamaria, Capuano, Annalisa, Cardinale, Fabio, Cerimoniale, Giovanni, Landi, Massimo, Malventano, Monica, Tosca, Mariangela, Varricchio, Attilio, Zicari, Anna Maria, Alfaro, Carlo, Barberi, Salvatore, Becherucci, Paolo, Bernardini, Roberto, Biasci, Paolo, Caffarelli, Carlo, Caldarelli, Valeria, Capristo, Carlo, Castronuovo, Serenella, Chiappini, Elena, Cutrera, Renato, De Castro, Giovanna, De Franciscis, Luca, Decimo, Fabio, Iacono, Iride Dello, Diaferio, Lucia, Di Cicco, Maria Elisa, Di Mauro, Caterina, Di Mauro, Cristina, Di Mauro, Dora, Di Mauro, Francesco, Di Mauro, Gabriella, Doria, Mattia, Falsaperla, Raffaele, Ferraro, Valentina, Fanos, Vassilio, Galli, Elena, Ghiglioni, Daniele Giovanni, Indinnimeo, Luciana, Kantar, Ahmad, Lamborghini, Adima, Licari, Amelia, Lubrano, Riccardo, Luciani, Stefano, Macrì, Francesco, Marseglia, Gianluigi, Martelli, Alberto Giuseppe, Masini, Luigi, Midulla, Fabio, Minasi, Domenico, Miniello, Vito Leonardo, Del Giudice, Michele Miraglia, Morandini, Sergio Renzo, Nardini, Germana, Nocerino, Agostino, Novembre, Elio, Pajno, Giovanni Battista, Paravati, Francesco, Piacentini, Giorgio, Piersantelli, Cristina, Pozzobon, Gabriella, Ricci, Giampaolo, Spanevello, Valter, Turra, Renato, Zanconato, Stefania, Borrelli, Melissa, Villani, Alberto, Corsello, Giovanni, Di Mauro, Giuseppe, Peroni, Diego, and Marzia Duse, Francesca Santamaria, Maria Carmen Verga, Marcello Bergamini, Giovanni Simeone, Lucia Leonardi, Giovanna Tezza, Annamaria Bianchi, Annalisa Capuano, Fabio Cardinale, Giovanni Cerimoniale, Massimo Landi, Monica Malventano, Mariangela Tosca, Attilio Varricchio, Anna Maria Zicari, Carlo Alfaro, Salvatore Barberi, Paolo Becherucci, Roberto Bernardini, Paolo Biasci, Carlo Caffarelli, Valeria Caldarelli, Carlo Capristo, Serenella Castronuovo, Elena Chiappini, Renato Cutrera, Giovanna De Castro, Luca De Franciscis, Fabio Decimo, Iride Dello Iacono, Lucia Diaferio, Maria Elisa Di Cicco, Caterina Di Mauro, Cristina Di Mauro, Dora Di Mauro, Francesco Di Mauro, Gabriella Di Mauro, Mattia Doria, Raffaele Falsaperla, Valentina Ferraro, Vassilios Fanos, Elena Galli, Daniele Giovanni Ghiglioni, Luciana Indinnimeo, Ahmad Kantar, Adima Lamborghini, Amelia Licari, Riccardo Lubrano, Stefano Luciani, Francesco Macrì, Gianluigi Marseglia, Alberto Giuseppe Martelli, Luigi Masini, Fabio Midulla, Domenico Minasi, Vito Leonardo Miniello, Michele Miraglia Del Giudice, Sergio Renzo Morandini, Germana Nardini, Agostino Nocerino, Elio Novembre, Giovanni Battista Pajno, Francesco Paravati, Giorgio Piacentini, Cristina Piersantelli, Gabriella Pozzobon, Giampaolo Ricci, Valter Spanevello, Renato Turra , Stefania Zanconato, Melissa Borrelli, Alberto Villani, Giovanni Corsello, Giuseppe Di Mauro, Diego Peroni
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Male ,Delphi Technique ,Rhinosinusitis ,Respiratory Tract Diseases ,Delphi method ,Rhinosinusiti ,Laryngitis ,Adrenal Cortex Hormone ,Pediatrics ,0302 clinical medicine ,Adrenal Cortex Hormones ,Multidisciplinary approach ,Inhaled corticosteroid ,030212 general & internal medicine ,Child ,Respiratory Tract Disease ,Rhiniti ,Societies, Medical ,Rhinitis ,education.field_of_study ,Inhaled corticosteroids ,Wheezing ,General Medicine ,Settore MED/38 ,Systematic review ,Italy ,Laryngotracheitis ,Child, Preschool ,Laryngotracheiti ,Female ,medicine.symptom ,Human ,medicine.medical_specialty ,Consensus ,Adolescent ,Population ,Consensu ,RJ1-570 ,03 medical and health sciences ,Intervention (counseling) ,Administration, Inhalation ,medicine ,Laryngospasm ,Humans ,Adenoid hypertrophy ,education ,Intensive care medicine ,Asthma ,business.industry ,Research ,Infant ,medicine.disease ,030228 respiratory system ,business - Abstract
Background In 2019, a multidisciplinary panel of experts from eight Italian scientific paediatric societies developed a consensus document for the use of inhaled corticosteroids in the management and prevention of the most common paediatric airways disorders. The aim is to provide healthcare providers with a multidisciplinary document including indications useful in the clinical practice. The consensus document was intended to be addressed to paediatricians who work in the Paediatric Divisions, the Primary Care Services and the Emergency Departments, as well as to Residents or PhD students, paediatric nurses and specialists or consultants in paediatric pulmonology, allergy, infectious diseases, and ear, nose, and throat medicine. Methods Clinical questions identifying Population, Intervention(s), Comparison and Outcome(s) were addressed by methodologists and a general agreement on the topics and the strength of the recommendations (according to the GRADE system) was obtained following the Delphi method. The literature selection included secondary sources such as evidence-based guidelines and systematic reviews and was integrated with primary studies subsequently published. Results The expert panel provided a number of recommendations on the use of inhaled corticosteroids in preschool wheezing, bronchial asthma, allergic and non-allergic rhinitis, acute and chronic rhinosinusitis, adenoid hypertrophy, laryngitis and laryngospasm. Conclusions We provided a multidisciplinary update on the current recommendations for the management and prevention of the most common paediatric airways disorders requiring inhaled corticosteroids, in order to share useful indications, identify gaps in knowledge and drive future research.
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- 2021
26. Chilblains in a child with confirmed SARS-CoV-2 infection: a red flag for late-onset skin manifestation in previously infected individuals
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Marcello Lanari, Chiara Ghizzi, Lucia Leonardi, Tiziana Lazzarotto, Annalisa Patrizi, Ilaria Corsini, Annalucia Virdi, Cosimo Misciali, Liliana Gabrielli, Francesca Conti, Iria Neri, Alba Guglielmo, Neri I., Conti F., Virdi A., Guglielmo A., Leonardi L., Corsini I., Ghizzi C., Gabrielli L., Lazzarotto T., Lanari M., Patrizi A., and Misciali C.
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Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Biopsy ,Late onset ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Pandemic ,Medicine ,Humans ,Family ,Chilblains ,Child ,Letters to the Editor ,Letter to the Editor ,business.industry ,SARS-CoV-2 ,Outbreak ,COVID-19 ,medicine.disease ,Infectious Diseases ,030220 oncology & carcinogenesis ,Immunology ,FLAG (chemotherapy) ,business ,Human - Abstract
During the COVID-19 pandemic an outbreak of chilblain lesions has been described worldwide. The relationship with SARS-CoV-2 infection is still debated. Emerging literature regarding this possible correlation focuses on two hypotheses: an endothelial infection or the result of an IFN type I-mediated immune response.
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- 2021
27. Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
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Cristina Tea Natalucci, Francesca Tosato, Alessandro Borghesi, Giorgiana Madalina Ursu, Beatrice Rivalta, Andrea Finocchi, Antonio Marzollo, Alessandra Biffi, Marco Tartaglia, Linda Rossini, Andrea Ciolfi, Cecilia Mancini, Caterina Cancrini, Silvia Bresolin, Gigliola Di Matteo, Andrea Dotta, Francesca Conti, Lucia Leonardi, Caterina Tretti, Maria Chiriaco, and Maddalena Martella
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,diagnosis ,medicine.drug_class ,Immunology ,Antibiotics ,Granulomatous Disease, Chronic ,involvement ,CYBB ,CYBA ,Sepsis ,term-follow-up ,experience ,Chronic granulomatous disease ,children ,CGD ,Immunity ,hemic and lymphatic diseases ,HLH ,MAS ,Necrotizing pneumonia ,Newborn ,Humans ,Immunology and Allergy ,Medicine ,Hemophagocytic lymphohistiocytosis ,business.industry ,Macrophage Activation Syndrome ,Infant, Newborn ,inflammatory manifestations ,medicine.disease ,Settore MED/38 ,infant ,Transplantation ,Phenotype ,hemophagocytic lymphohistiocytosis ,Pneumonia, Necrotizing ,Macrophage activation syndrome ,Female ,business ,Histiocytosis ,transplantation - Abstract
Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI), characterized by a deficient phagocyte killing due to the inability of NADPH oxidase to produce reactive oxygen species in the phagosome. Patients with CGD suffer from severe and recurrent infections and chronic inflammatory disorders. Onset of CGD has been rarely reported in neonates and only as single case reports or small case series. We report here the cases of three newborns from two different kindreds, presenting with novel infectious and inflammatory phenotypes associated with CGD. A girl with CYBA deficiency presented with necrotizing pneumonia, requiring a prolonged antibiotic treatment and resulting in fibrotic pulmonary changes. From the second kindred, the first of two brothers developed a fatal Burkholderia multivorans sepsis and died at 24 days of life. His younger brother had a diagnosis of CYBB deficiency and presented with Macrophage Activation Syndrome/Hemophagocytic Lympho-Histiocytosis (MAS/HLH) without any infection, that could be controlled with steroids. We further report the findings of a review of the literature and show that the spectrum of microorganisms causing infections in neonates with CGD is similar to that of older patients, but the clinical manifestations are more diverse, especially those related to the inflammatory syndromes. Our findings extend the spectrum of the clinical presentation of CGD to include unusual neonatal phenotypes. The recognition of the very early, potentially life-threatening manifestations of CGD is crucial for a prompt diagnosis, improvement of survival and reduction of the risk of long-term sequelae.
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- 2021
28. Efficacy of Pidotimod use in treating allergic rhinitis in a pediatric population
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Laura Schiavi, Maria Pia Conte, Lucia Leonardi, Giovanna De Castro, Marzia Duse, Massimiliano Marazzato, Anna Maria Zicari, Giulia Brindisi, and Alessandra Gori
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0301 basic medicine ,Male ,medicine.medical_specialty ,Inflammation ,medicine.disease_cause ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,pidotimod ,microbiota ,rhinomanometry ,nasal obstruction ,Internal medicine ,medicine ,otorhinolaryngologic diseases ,Humans ,Immunologic Factors ,030223 otorhinolaryngology ,Child ,medicine.diagnostic_test ,Respiratory tract infections ,business.industry ,Research ,Microbiota ,lcsh:RJ1-570 ,Age Factors ,lcsh:Pediatrics ,Hypertrophy ,respiratory system ,Nasal obstruction ,Rhinitis, Allergic ,Rhinomanometry ,Pyrrolidonecarboxylic Acid ,030104 developmental biology ,Treatment Outcome ,Italy ,Staphylococcus aureus ,Nasal Swab ,Adenoids ,Thiazolidines ,Female ,medicine.symptom ,business ,Pidotimod ,Pediatric population ,medicine.drug - Abstract
Background Allergic rhinitis (AR) and adenoidal hypertrophy (AH) are the most frequent causative disorders of nasal obstruction in children, leading to recurrent respiratory infections. Both nasal cavities are colonized by a stable microbial community susceptible to environmental changes and Staphylococcus aureus seems to play the major role. Furthermore, nasal microbiota holds a large number and variety of viruses with upper respiratory tract infections. This local microbiota deserves attention because its modification could induce a virtuous cross-talking with the immune system, with a better clearance of pathogens. Although AR and AH present a different etiopathogenesis, they have in common a minimal chronic inflammation surrounding nasal obstruction; hence it would be challenging to evaluate the effect of an immunomodulator on this minimal chronic inflammation with possible clinical and microbiological effects. The aim of this study is therefore to evaluate the efficacy of an immunomoldulator (Pidotimod) on nasal obstruction in children with AR and/or AH and whether its action involves a variation of nasal microbiota. Methods We enrolled 76 children: those with allergic rhinitis (AR) sensitized to dust mites entered the AR group, those with adenoidal hypertrophy (AH) the AH group, those with both conditions the AR/AH group and those without AR ± AH as controls (CTRL). At the first visit they performed: skin prick tests, nasal fiberoptic endoscopy, anterior rhinomanometry, nasal swabs. Children with. AR ± AH started treatment with Pidotimod. After 1 month they were re-evaluated performing the same procedures. The primary outcome was the evaluation of nasal obstruction after treatment and the secondary outcome was the improvement of symptoms and the changes in nasal microflora. Results All patients improved their mean nasal flow (mNF) in respect to the baseline. In AR children mNF reached that one of CTRL. In AH children±AR the mNF was lower in respect to CTRL and AR group. We did not find any differences among all the groups at the two different time points in nasal microflora. Conclusions Pidotimod is able to give an improvement in nasal obstruction, especially in AR children but this effect seems to be not mediated by changes in nasal microbiota.
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- 2020
29. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality
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Ludovica Crescenzi, Emilia Cirillo, Alessio Benvenuto, Fabio Cardinale, Andrea Pession, Federica Pulvirenti, Simona Ferrari, Maria Caterina Putti, Giovanna Fabio, Rita Consolini, Fausto Cossu, Andrea Finocchi, Stefano Volpi, Angelo Vacca, Carolina Marasco, Marco Zecca, Claudio Pignata, Viviana Moschese, Gigliola Di Matteo, Lucia Leonardi, Raffaele Badolato, Marzia Duse, A G Ugazio, Manuela Baronio, Maddalena Marinoni, Chiara Azzari, Sara Signa, Silvana Martino, Maria Licciardello, Rosa Maria Dellepiane, Lucia Augusta Baselli, Luisa Gazzurelli, Giuseppe Spadaro, Claudio Lunardi, Cinzia Milito, Baldassare Martire, Alessandro Plebani, Francesca Conti, Caterina Cancrini, Maria Carrabba, Patrizia Bertolini, Francesco Cinetto, Davide Montin, Antonino Trizzino, Isabella Quinti, Vassilios Lougaris, Annarosa Soresina, Silvia Ricci, Silvia Giliani, Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., 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
Lung Diseases ,Male ,0301 basic medicine ,Pediatrics ,X-linked agammaglobulinemia ,Bruton tyrosine kinase ,0302 clinical medicine ,Bruton’s tyrosin kinase ,Agammaglobulinemia ,Immunology and Allergy ,Medicine ,Child ,biology ,Incidence (epidemiology) ,Chronic sinusitis ,Genetic Diseases, X-Linked ,Middle Aged ,Settore MED/38 ,Natural history ,Italy ,chronic lung disease ,Genetic Diseases ,Child, Preschool ,Adolescent ,Adult ,Follow-Up Studies ,Humans ,Infant ,Infant, Newborn ,Infections ,Sinusitis ,Survival Analysis ,Young Adult ,Antibody ,medicine.medical_specialty ,Long term follow up ,Immunology ,03 medical and health sciences ,Preschool ,business.industry ,X-Linked ,Newborn ,medicine.disease ,030104 developmental biology ,Lung disease ,Primary immunodeficiency ,biology.protein ,business ,030215 immunology - 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.
- Published
- 2020
30. Temporal trends of polychlorinated biphenyls serum levels in subjects living in a highly polluted area from 2003 to 2015: a follow-up study
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Lucia Leonardi, Elena Raffetti, Michele Magoni, Fabrizio Speziani, Grazia Orizio, Carmelo Scarcella, Pietro Apostoli, and Francesco Donato
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Adult ,Male ,Multivariate statistics ,010504 meteorology & atmospheric sciences ,Population ,Environmental pollution ,010501 environmental sciences ,01 natural sciences ,Animal science ,Human exposure ,PCB ,Polychlorinated biphenyls ,Temporal trend ,Aged ,Environmental Monitoring ,Environmental Pollutants ,Environmental Pollution ,Female ,Follow-Up Studies ,Humans ,Italy ,Middle Aged ,Polychlorinated Biphenyls ,Public Health, Environmental and Occupational Health ,Medicine ,Prospective cohort study ,education ,0105 earth and related environmental sciences ,education.field_of_study ,business.industry ,Environmental and Occupational Health ,Follow up studies ,Mean age ,Congener ,Environmental chemistry ,Public Health ,Geometric mean ,business - Abstract
Introduction A chemical factory located in Brescia, an industrialized town in North Italy, produced polychlorinated biphenyls (PCBs) since the 1930s to the 1980s, determining a relevant pollution of soil, food and people. Since 2001, following a survey carried out in the general population living in the town, the individuals with PCB serum levels higher than the reference entered a follow-up study. Methods We performed a prospective cohort study including subjects with at least three PCB measures during the period 2003–2015. We evaluated the temporal trends of total PCB serum levels, the most common PCB congeners (PCB 138,153, 170, 180, 194 and 209), and toxic equivalency of dioxin-like PCBs using univariate and multivariate mixed models with and without a cubic-spline term for time. Results A total of 128 subjects were enrolled (46.1% males, mean age at enrolment 57.7 years). The geometric mean of PCBs decreased from 35.4 ng/ml at 0–3 years to 29.3 ng/ml at 4–8 years and to 23.0 ng/ml at 9–12 years. A 3.8% reduction of total PCB serum levels per year was estimated using both univariate and multivariate mixed models adjusted for age; a similar reduction was found for the most common PCB congeners and for toxic equivalency. Total PCB serum levels decreased over time for each age group: −3.9%, −4.0% and −3.4% for subjects aged ≤55 years, 56–65 and ≥66 years, respectively. Conclusion A significant decrease of serum concentrations of PCBs was observed in subjects with high serum levels of these chemicals at enrolment over a twelve year period. The decrease was evident for each PCB congener and age group.
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- 2017
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31. Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype
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Rita Carsetti, Marzia Duse, Simona Ferrari, Alessia Di Felice, Giulia Lorenzetti, Bianca Cinicola, and Lucia Leonardi
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Proband ,Case Report ,030204 cardiovascular system & hematology ,Selective IgA deficiency ,Pediatrics ,Immunoglobulin G ,Hypogammaglobulinemia ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,CVID phenotype ,biology ,business.industry ,Common variable immunodeficiency ,LIG1 ,lcsh:RJ1-570 ,TNFRSF13B ,lcsh:Pediatrics ,medicine.disease ,C193X ,Immunoglobulin M ,Pediatrics, Perinatology and Child Health ,Immunology ,biology.protein ,Primary immunodeficiency ,RAG1 ,Antibody ,business - Abstract
Common variable immunodeficiency (CVID) is the most common and clinically relevant primary immunodeficiency (PID). Genetic basis of CVID remains largely unknown. However, in a minority of CVID patients, a number of distinct genetic defects affecting the normal processes of B cell maturation and differentiation into memory B cells have now been identified, resulting in markedly reduced serum levels of immunoglobulin G (IgG) and low immunoglobulin A (IgA) or immunoglobulin M (IgM), with impaired antibody responses, despite the presence of normal levels of B cells. Patients with CVID develop recurrent and chronic infections of respiratory and gastrointestinal tracts, autoimmune diseases, lymphoproliferative complications, malignancies, and granulomatous disease. We report the case of a boy admitted to our unit for the first time at the age of three for reduced gamma globulin levels and a clinical history positive for two episodes of pneumonia. Our patient incompletely met ESID diagnostic criteria for CVID, but molecular genetic analysis, a NGS panel including 47 PID-associated genes was performed in the proband and in his parents, revealing the presence of a heterozygous nucleotide substitution in exon 4 (c.579C>A) of TNFRSF13B encoding TACI. This mutation has been described only in two CVID adult patients and in a child with selective IgA deficiency (sIgAD). We highlighted the same mutation in the asymptomatic mother and detected two extra heterozygous mutations of RIG1 and LIG1. We promptly started intravenous immunoglobulin (IVIG) therapy with good tolerance. Despite the diagnosis of CVID remains clinical, in this case report we underline the importance of considering and planning genetic workup in all subjects with unclear diagnosis and of reporting new molecular diagnosis especially in case of rare mutations.
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- 2019
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32. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome
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Stefano Volpi, Francesca Conti, Baldassarre Martire, Emanuela Ricotti, Silvia Ricci, Ugo Ramenghi, Francesco Licciardi, Donato Amodio, Carmela Giancotta, Grazia Bossi, Chiara Azzari, Agostina Marolda, Marco Gattorno, Francesca Robasto, Giuliana Giardino, Caterina Cancrini, Claudio Pignata, Marzia Duse, Alessandro Plebani, Lucia Leonardi, Rosa Maria Dellepiane, Annarosa Soresina, Rita Consolini, Silvana Martino, Maria Caterina Putti, Francesca Ferro, Davide Montin, Giacomo Scaioli, Lucia Augusta Baselli, Silvia Di Cesare, Montin, Davide, Marolda, Agostina, Licciardi, Francesco, Robasto, Francesca, Di Cesare, Silvia, Ricotti, Emanuela, Ferro, Francesca, Scaioli, Giacomo, Giancotta, Carmela, Amodio, Donato, Conti, Francesca, Giardino, Giuliana, Leonardi, Lucia, Ricci, Silvia, Volpi, Stefano, Baselli, Lucia Augusta, Azzari, Chiara, Bossi, Grazia, Consolini, Rita, Dellepiane, Rosa Maria, Duse, Marzia, Gattorno, Marco, Martire, Baldassarre, Caterina Putti, Maria, Soresina, Annarosa, Plebani, Alessandro, Ramenghi, Ugo, Martino, Silvana, Pignata, Claudio, and Cancrini, Caterina
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Male ,Hemolytic anemia ,T-Lymphocytes ,Lymphocyte ,NK cells ,Gastroenterology ,0302 clinical medicine ,Immunophenotyping ,Immunology and Allergy ,030212 general & internal medicine ,CD4 naïve cell ,Child ,hemolytic anemia ,B-Lymphocytes ,thrombocytopenic purpura ,22q11.2 deletion syndrome ,Autoimmune cytopenia ,B immunophenotype ,CD4 naïve cells ,DiGeorge syndrome ,Switched memory B cells ,T immunophenotype ,Thrombocytopenic purpura ,Middle Aged ,diGeorge syndrome ,medicine.anatomical_structure ,Child, Preschool ,Female ,Switched memory B cell ,autoimmune cytopenia ,switched memory B cells ,Autoimmune hemolytic anemia ,Adolescent ,Adult ,Autoimmune Diseases ,Case-Control Studies ,DiGeorge Syndrome ,Humans ,Lymphopenia ,Young Adult ,medicine.medical_specialty ,Naive B cell ,03 medical and health sciences ,Internal medicine ,medicine ,NK cell ,Preschool ,Survival rate ,Settore MED/38 - Pediatria Generale e Specialistica ,Cytopenia ,business.industry ,medicine.disease ,030228 respiratory system ,business - Abstract
Background Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia. There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients. Objective To describe the peculiar B and T subpopulation defects in patients with 22q11DS who have developed HA and test if these defects precede the development of HA. Methods We performed a case-control multicenter study. Patients with HA were compared with a control population of 22q11.2DS without HA (non-HA). A complete immunological evaluation was performed at diagnosis and at the last follow-up including extensive T and B phenotypes. Results Immunophenotype at the last follow-up was available in 23 HA and 45 non-HA patients. HA patients had significantly decreased percentage of naive CD4+ cells (26.8% vs 43.2%, P = .003) and recent thymic emigrants (48.6% vs 80.5%, P = .046); decreased class-switched B cells (2.0% vs 5.9%, P = .04) and increased naive B cells (83.5% vs 71.4%, P = .02); increased CD16+/56+ both in absolute number (312 vs 199, P = .009) and percentage (20.0% vs 13.0%, P = .03). Immunophenotype was performed in 36 patients (11 HA and 25 non-HA) at diagnosis. Odds ratio (OR) of immune cytopenia were estimated for both CD4 naive ≤30% (OR 14.0, P = .002) and switched memory B cells ≤2% (OR 44.0, P = .01). The estimated survival curves reached statistical significance, respectively, P = .0001 and P = .002. Conclusions Among patients with 22q11.2DS, those with HA have characteristic lymphocyte anomalies that appear considerably before HA onset. Systematic immunophenotyping of patients with 22q11.2DS at diagnosis is advisable for early identification of patients at risk for this severe complication.
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- 2019
33. Inborn errors of immunity with atopic phenotypes: A practical guide for allergists
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Giuliana Giardino, Bianca Cinicola, Fabio Cardinale, Caterina Cancrini, Stefano Volpi, Annarosa Soresina, Vassilios Lougaris, Francesco La Torre, Gian Luigi Marseglia, Riccardo Castagnoli, Lucia Leonardi, S Corrente, and Silvia Federici
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lcsh:Immunologic diseases. Allergy ,Pulmonary and Respiratory Medicine ,Allergy ,Atopic phenotypes ,Atopy ,Inborn errors of immunity ,Primary immunodeficiency ,Immunology ,Immunoglobulin E ,medicine.disease_cause ,Article ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,medicine ,Immunology and Allergy ,030223 otorhinolaryngology ,Immunodeficiency ,biology ,business.industry ,Immune dysregulation ,medicine.disease ,Settore MED/02 ,030228 respiratory system ,biology.protein ,Allergists ,lcsh:RC581-607 ,business - Abstract
Inborn errors of immunity (IEI) are a heterogeneous group of disorders, mainly resulting from mutations in genes associated with immunoregulation and immune host defense. These disorders are characterized by different combinations of recurrent infections, autoimmunity, inflammatory manifestations, lymphoproliferation, and malignancy. Interestingly, it has been increasingly observed that common allergic symptoms also can represent the expression of an underlying immunodeficiency and/or immune dysregulation. Very high IgE levels, peripheral or organ-specific hypereosinophilia, usually combined with a variety of atopic symptoms, may sometimes be the epiphenomenon of a monogenic disease. Therefore, allergists should be aware that severe and/or therapy-resistant atopic disorders might be the main clinical phenotype of some IEI. This could pave the way to target therapies, leading to better quality of life and improved survival in affected patients.
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- 2021
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34. B-cell activation with CD40L or CpG measures the function of B-cell subsets and identifies specific defects in immunodeficient patients
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Simona Cascioli, Chiara Farroni, Marzia Duse, Ola Grimsholm, Alessia Scarselli, Emiliano Marasco, Eva Piano Mortari, Lucia Leonardi, Marco Scarsella, Ezio Giorda, Rita Carsetti, Valentina Marcellini, Caterina Cancrini, and Diletta Valentini
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0301 basic medicine ,CD40 ,biology ,Immunology ,Selective IgA deficiency ,medicine.disease ,B-1 cell ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Immune system ,medicine.anatomical_structure ,CpG site ,Plasma cell differentiation ,biology.protein ,medicine ,Immunology and Allergy ,Antibody ,B cell ,030215 immunology - Abstract
Around 65% of primary immunodeficiencies are antibody deficiencies. Functional tests are useful tools to study B-cell functions in vitro. However, no accepted guidelines for performing and evaluating functional tests have been issued yet. Here, we report our experience on the study of B-cell functions in infancy and throughout childhood. We show that T-independent stimulation with CpG measures proliferation and differentiation potential of memory B cells. Switched memory B cells respond better than IgM memory B cells. On the other hand, CD40L, a T-dependent stimulus, does not induce plasma cell differentiation, but causes proliferation of naive and memory B cells. During childhood, the production of plasmablasts in response to CpG increases with age mirroring the development of memory B cells. The response to CD40L does not change with age. In patients with selective IgA deficiency (SIgAD), we observed that switched memory B cells are reduced due to the absence of IgA memory B cells. In agreement, IgA plasma cells are not generated in response to CpG. Unexpectedly, B cells from SIgAD patients show a reduced proliferative response to CD40L. Our results demonstrate that functional tests are an important tool to assess the functions of the humoral immune system.
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- 2016
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35. Polychlorinated biphenyls (PCBs) and risk of hypertension: A population-based cohort study in a North Italian highly polluted area
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Claudio Sileo, Francesco Donato, Elena Raffetti, Michele Magoni, Lucia Leonardi, and Giuseppe De Palma
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Male ,Environmental Engineering ,010504 meteorology & atmospheric sciences ,010501 environmental sciences ,Overweight ,01 natural sciences ,Cohort Studies ,Continuous variable ,Environmental medicine ,Highly exposed population ,Hypertension/high blood pressure ,PCBs ,Population based cohort ,symbols.namesake ,Environmental health ,Humans ,Environmental Chemistry ,Medicine ,Prospective Studies ,Poisson regression ,Prospective cohort study ,Waste Management and Disposal ,0105 earth and related environmental sciences ,business.industry ,Absolute risk reduction ,food and beverages ,Middle Aged ,Polychlorinated Biphenyls ,Pollution ,Italy ,Relative risk ,Hypertension ,symbols ,Environmental Pollutants ,Female ,medicine.symptom ,business - Abstract
This study aimed to assess the longitudinal association between PCB exposure and the subsequent occurrence of hypertension in a highly polluted area. The study subjects had at least one PCB serum measurement between 2003 and 2014 and were followed up to the end of 2017. Hypertension cases were obtained from the Brescia Health Protection Agency database. Risk ratios of hypertension for total PCBs, high-, middle- and low-chlorinated groups and some common congeners were estimated using Poisson regression models. 1031 subjects were included (43.4% males, mean age 45.3 years). 229 subjects developed hypertension during the follow-up. Total PCBs, middle- and high-chlorinated PCBs, and particularly PCB congeners 138, 153 and 180 were associated with an about 2-fold increased risk of hypertension comparing the third with first tertile of distribution. After lipid-standardization of PCB serum values, the excess risk showed only a slight attenuation. A dose-response linear relationship of the risk of hypertension by PCB serum concentrations as continuous variables was also observed. The PCBs-hypertension association was stronger in overweight/obese subjects than those with normal body mass index. In this prospective cohort study the serum levels of total and middle to high chlorinated (≥6 Cl) PCBs were associated with an increased risk of hypertension, particularly among overweight/obese subjects.
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- 2020
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36. Chronic urticaria in a child affected by atopic dermatitis: effective treatment with omalizumab
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Marzia Duse, Lucia Leonardi, and Andrea Uva
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medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Dermatology ,Atopic dermatitis ,Omalizumab ,medicine.disease ,body regions ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,030228 respiratory system ,Medicine ,Effective treatment ,business ,chronic urticaria ,atopic dermatitis ,omalizumab ,Chronic urticaria ,Topical steroid ,medicine.drug - Abstract
This article describes a clinical experience in a 7-year-old girl with chronic spontaneous urticaria and atopic dermatitis, resistant to therapy with antihistamines and topical steroid. Omalizumab treatment not only allowed complete remission of chronic spontaneous urticaria but also significantly improved atopic dermatitis symptoms. The off-label use of omalizumab was well tolerated and no adverse events were reported.
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- 2018
37. Neuropsychological and Quality of life (QoL) assessment in children with severe asthma (SA) and moderate persistent asthma (MPA): a case-control study
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Maria Luisa Villani, Valeria Caldarelli, Laura Montalbano, Vera Galli, Simona Barni, Silvia Montella, Michele Ghezzi, Sara Bozzetto, Lucia Leonardi, Mara Lelli, Grazia Fenu, Violetta Mastrorilli, Antonio Di Marco, Amelia Licari, Giovanna Cilluffo, Emanuela di Palmo, Franca Rusconi, Alessandro Volpini, and Stefania La Grutta
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030203 arthritis & rheumatology ,Pediatrics ,medicine.medical_specialty ,business.industry ,Severe asthma ,Neuropsychology ,Case-control study ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,Medicine ,Psychological aspects ,business ,Persistent asthma ,030217 neurology & neurosurgery - Abstract
Background: SA requires high dose inhaled steroids + a second controller, and management at a specialized centre to exclude differential diagnoses and evaluate comorbidities. Psychological aspects in SA children require further consideration. Aim: To evaluate neuropsychological aspects and QoL in children with SA (definition as above) vs children with MPA. Methods: Multicenter cross-sectional study in Italy included 261 children, 138 Results: SA Conclusions: SA children had substantial more neuropsychological problems in different areas than peers with MPA and worse QoL and deserve a careful neuropsychological follow up.
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- 2018
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38. B-cell activation with CD40L or CpG measures the function of B-cell subsets and identifies specific defects in immunodeficient patients
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Emiliano, Marasco, Chiara, Farroni, Simona, Cascioli, Valentina, Marcellini, Marco, Scarsella, Ezio, Giorda, Eva, Piano Mortari, Lucia, Leonardi, Alessia, Scarselli, Diletta, Valentini, Caterina, Cancrini, Marzia, Duse, Ola, Grimsholm, and Rita, Carsetti
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Adult ,Adolescent ,selective IgA deficiency ,CD40 Ligand ,B-Lymphocyte Subsets ,Receptors, Antigen, B-Cell ,B cells ,functional tests ,immunodeficiency ,pediatric immunology ,Lymphocyte Activation ,Immunophenotyping ,Young Adult ,Humans ,CD40 Antigens ,Child ,Cells, Cultured ,Age Factors ,Immunologic Deficiency Syndromes ,Infant ,Immunoglobulin Class Switching ,Immunoglobulin A ,Phenotype ,Settore MED/02 ,Immunoglobulin M ,Oligodeoxyribonucleotides ,Child, Preschool ,Immunologic Memory ,Biomarkers ,Protein Binding - Abstract
Around 65% of primary immunodeficiencies are antibody deficiencies. Functional tests are useful tools to study B-cell functions in vitro. However, no accepted guidelines for performing and evaluating functional tests have been issued yet. Here, we report our experience on the study of B-cell functions in infancy and throughout childhood. We show that T-independent stimulation with CpG measures proliferation and differentiation potential of memory B cells. Switched memory B cells respond better than IgM memory B cells. On the other hand, CD40L, a T-dependent stimulus, does not induce plasma cell differentiation, but causes proliferation of naïve and memory B cells. During childhood, the production of plasmablasts in response to CpG increases with age mirroring the development of memory B cells. The response to CD40L does not change with age. In patients with selective IgA deficiency (SIgAD), we observed that switched memory B cells are reduced due to the absence of IgA memory B cells. In agreement, IgA plasma cells are not generated in response to CpG. Unexpectedly, B cells from SIgAD patients show a reduced proliferative response to CD40L. Our results demonstrate that functional tests are an important tool to assess the functions of the humoral immune system.
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- 2017
39. Polychlorinated biphenyl serum levels, thyroid hormones and endocrine and metabolic diseases in people living in a highly polluted area in North Italy: A population-based study
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Grazia Orizio, Fabrizio Speziani, Francesco Donato, Carmelo Scarcella, Lucia Leonardi, Alice Gaia, Michele Magoni, and Claudia Zani
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0301 basic medicine ,Thyroid hormones ,Population ,Physiology ,Article ,Environmental science ,Thyroid Disorder ,Endocrine diseases ,Persistence (computer science) ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Polychlorinated biphenyls ,Diabetes mellitus ,medicine ,Endocrine system ,lcsh:Social sciences (General) ,lcsh:Science (General) ,education ,Public health ,education.field_of_study ,Multidisciplinary ,Metabolic Disorder ,Metabolic disorder ,Polychlorinated biphenyl ,Metabolic diseases ,medicine.disease ,Thyroid disorder ,Metabolism ,030104 developmental biology ,chemistry ,Hypertension ,lcsh:H1-99 ,030217 neurology & neurosurgery ,lcsh:Q1-390 - Abstract
Polychlorinated biphenyls (PCBs) are persistent organic pollutants produced until the 1980s, which they are still present worldwide. They have been associated with metabolic and endocrine diseases and hypertension in humans, but definite evidence is lacking. A chemical factory producing PCBs caused a heavy pollution in an urban area in Northern Italy. We aimed to evaluate present PCBs serum levels according to demographic and lifestyle variables and their associations with endocrine and metabolic diseases and hypertension in the resident general population. A random sample of 816 adults aged 20–79 years (mean ± SD: 49.1 ± 16.5 years) was enrolled in a cross-sectional population-based study. The participants provided a fasting blood sample for laboratory analysis and were face-to-face interviewed about the presence of chronic diseases. The serum level of total PCBs was computed as the sum of 33 PCB congeners. The median serum level of lipid-adjusted total PCBs was 435.2 and 95th centile was 2154.9 ng/g lipid. Medium and high chlorinated PCBs with immunotoxic and endocrine disrupting activity contributed most to total PCB serum levels, particularly PCBs 138, 153, 170, 180 and 194. The serum levels of total PCBs and of PCB functional groups were positively associated with age and negatively with female gender, education, smoking habit and BMI, and not associated with serum levels of thyroid hormones and TSH and glycaemia and with presence of endocrine diseases, diabetes and hypertension by multivariable analysis. Subgroup analyses according to gender, age and BMI provided similar results. In conclusion, this study shows a long-term persistence of past exposure to PCBs and does not support the hypothesis of an association between PCB exposure and prevalence of endocrine and metabolic diseases and hypertension.
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- 2019
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40. Substantial decline of polychlorinated biphenyls (PCBs) serum levels 10 years after public health interventions in a population living near a contaminated site in Northern Italy
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Michele Magoni, Lucia Leonardi, Fabrizio Speziani, Alice Gaia, Grazia Orizio, Pietro Apostoli, Francesco Donato, and Carmelo Scarcella
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education.field_of_study ,Geography ,Environmental health ,Public health interventions ,Population ,General Earth and Planetary Sciences ,education ,General Environmental Science ,Northern italy - Published
- 2016
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41. Temporal trends of polychlorinated biphenyls serum levels in subjects living in a highly polluted area in Italy from 2003 to 2015: a population-based cohort study
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Michele Magoni, Pietro Apostoli, Grazia Orizio, Fabrizio Speziani, Lucia Leonardi, Carmelo Scarcella, Francesco Donato, and Elena Raffetti
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Pollution ,Population based cohort ,Geography ,Organic chemicals ,Environmental health ,media_common.quotation_subject ,General Earth and Planetary Sciences ,General Environmental Science ,media_common - Abstract
Introduction A chemical factory located in Brescia, an industrialized town in North Italy, produced polychlorinated biphenyls since the 1930s to the 1980s, determining a relevant pollution of soil,...
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- 2016
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42. Substantial decline of polychlorinated biphenyls serum levels 10Â years after public health interventions in a population living near a contaminated site in Northern Italy
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Lucia Leonardi, Michele Magoni, Francesco Donato, Grazia Orizio, Carmelo Scarcella, Alice Gaia, Pietro Apostoli, and Fabrizio Speziani
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0301 basic medicine ,Pollution ,Adult ,Male ,media_common.quotation_subject ,Public health interventions ,Population ,Environmental pollution ,Food contamination ,010501 environmental sciences ,Endocrine Disruptors ,01 natural sciences ,Human exposure ,PCB ,Polychlorinated biphenyls ,Aged ,Eating ,Environmental Exposure ,Environmental Pollution ,Female ,Humans ,Italy ,Middle Aged ,Polychlorinated Biphenyls ,Public Health ,2300 ,03 medical and health sciences ,Environmental health ,Medicine ,education ,lcsh:Environmental sciences ,0105 earth and related environmental sciences ,General Environmental Science ,media_common ,lcsh:GE1-350 ,education.field_of_study ,business.industry ,Contamination ,Soil contamination ,Northern italy ,030104 developmental biology ,Environmental chemistry ,business ,Food contaminant - Abstract
Introduction: Polychlorinated biphenyls (PCBs) are persistent pollutants classified among endocrine disruptors and human carcinogens. In an urban area in Northern Italy (Brescia), a chemical factory producing PCBs from 1938 to 1984 caused soil and food pollution. Since the discovering of the environmental pollution in the area in 2001, various public health interventions have been implemented to avoid human contamination. Methods: Two independent surveys were carried out in 2003 and 2013 using the same study design and methods. A random sample of the adult general population living in four areas of the town with different soil contamination level was enrolled in both surveys. Investigation included serum levels of 24 PCB congeners and of other common clinical-chemical parameters and questions about residential and occupational history as well as current and past diet and consumption of locally produced food. 537 subjects were tested in the 2003 and 488 in the 2013 survey. Results: Total PCB serum levels showed a strong correlation with age (Spearman r = 0.71 in 2003 and r = 0.80 in 2013), but not with gender. Consumers of food produced in the most polluted area had higher total PCB serum levels (median 15.6 and 4.7 ng/ml in 2003 and 2013, respectively) than non-consumers (4.1 and 2.3 ng/ml) and consumers of food produced in non-polluted areas (6.5 and 1.9 ng/ml), with increasing trend of PCB serum levels with cumulative local food intake. PCB serum levels from 2003 to 2013 survey declined by around half in all age groups, especially among the youngest people. The total PCB reduction was found to be due to a combination of a birth cohort effect (−41% every 10 years) and survey period effect (−18% in 2013 versus 2003), with medium chlorinated CB congeners showing the most relevant reduction (−30%) between the two surveys. High chlorinated CBs were more strongly associated with birth cohort (−46% every 10 years): in the 2013 survey they represented 58% of total PCBs in 60–79 years old while they were 37% among the under 40s with a median value 20 times higher in the oldest than in the youngest (3.1 versus 0.16 ng/ml). Conclusions: PCBs serum levels declined from the 2003 to 2013 survey though they are still high in the elderly mainly because of past intake of locally produced contaminated food. Present findings suggest that PCBs food chain contamination and human absorption have been interrupted successfully in the area since discovery of the pollution in 2001. Keywords: Polychlorinated biphenyls, PCB, Environmental pollution, Food contamination, Human exposure
- Published
- 2016
43. Facilitated Subcutaneous Immunoglobulin (fSCIg) Therapy in a Pediatric Patient with X-linked Agammaglobulinemia
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Lucia, Leonardi, primary
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- 2017
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44. Cow's milk proteins allergy: the latest on therapy
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Lucia Leonardi and Marzia Duse
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Pediatrics ,medicine.medical_specialty ,Allergy ,biology ,business.industry ,medicine.medical_treatment ,Breastfeeding ,Omalizumab ,Gut flora ,biology.organism_classification ,medicine.disease ,medicine.anatomical_structure ,Oral administration ,Food allergy ,Meeting Abstract ,medicine ,business ,Adjuvant ,Sensitization ,medicine.drug - Abstract
The progressive increase in incidence in cow’s milk proteins allergy (CMPA) in the past decades required primary prevention strategies for children at high-risk. Evidence of the role of gut microbiota in promoting the maturation of the immune system during early life encouraged supplementing the diet with probiotics in order to facilitate tolerance and delay or prevent sensitization. The efficacy of this strategy has not been consistently proven [1]. Breastfeeding is the most common therapeutic approach to CMPA in infants, although recent data showed that human milk has no effect on the development of allergy [2]. Use of special formulas is recommended in infants who are allergic or at high risk for CMPA. Extensively hydrolysed formulas (eHF) are the first therapeutic option. Amino acid-based formulas (AAFs) are recommended in infants who fail to respond to eHF, or have poor growth and IgE-mediated gastrointestinal disorders, or severe atopic eczema [3]. Hydrolysed formulas that do not originate from CMP are tolerated in 90% of children with CMPA. Use of soy milk is contraindicated in the first six months of life because of allergenic proteins and the presence of phytates and phytoestrogens [4]. The primary therapy for CMPA remains a strict avoidance of CMP, which promotes natural acquisition of tolerance in 80% of cases within the first 3 years of life. When the reintroduction of food causes severe clinical manifestations, diet restriction cannot be considered a solution, but instead exposes the infant to the constant danger of accidental exposure. Oral Immunotherapy (OIT) in food allergy requires the oral administration of increasing amounts of food up to a target dose, with the aim of reaching tolerance acquisition, which is considered complete when it is fully dose-independent[5]. OIT guidelines are not yet available. In severe, IgE-mediated clinical reactions to CMP, the combined therapy with Omalizumab, before and during “rush” OIT, reduced the number of severe adverse reactions and the duration of therapy while enhancing the possibilities of tolerance acquisition [6]. The use of Interferon-gamma (IFN-g) administered subcutaneously, as adjuvant in oral immunotheraphy (OIT + IFN- g), is a recent treatment. Unlike Omalizumab, the efficacy of IFN-g has been demonstrated in non-IgE-mediated food allergy. IFN-g seems to play a key role in the induction of tolerance but not in its maintenance. In studies on IgE-mediated CMPA, duration of treatment in patients with combined therapy (OIT + IFN-g) is 2-3 months compared to 6-12 months for patients treated exclusively with OIT [7].
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- 2015
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45. Risk factors affecting quality of life in a group of Italian children with asthma
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Luciano Baldini, V. De Vittori, Marzia Duse, Giancarlo Tancredi, Anna Maria Zicari, Lucia Leonardi, Flavia Chiarotti, G. De Castro, and Luciana Indinnimeo
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Gerontology ,Adult ,Male ,Time Factors ,Adolescent ,Immunology ,Rome ,Pilot Projects ,Severity of Illness Index ,Young Adult ,Quality of life (healthcare) ,Sex Factors ,Risk Factors ,Forced Expiratory Volume ,Surveys and Questionnaires ,medicine ,Odds Ratio ,Immunology and Allergy ,Humans ,Child ,Lung ,Asthma ,Pharmacology ,business.industry ,fevi ,pediatrics ,questionnaire ,mothers ,asthma ,quality of life ,Intradermal Tests ,Middle Aged ,medicine.disease ,humanities ,respiratory tract diseases ,Logistic Models ,Spirometry ,Multivariate Analysis ,Disease Progression ,Linear Models ,Quality of Life ,Female ,business ,Maternal Age - Abstract
The measure of Quality of Life (QoL) has become one of the most important criteria used to assess the impact of chronic illness, such as asthma, on the patient's daily life, in adults and children alike. The objective of our open observational study was to measure the QoL and analyze several factors that potentially affect QoL, such as symptoms and functional respiratory parameters, in a cohort of children with asthma. One hundred and twenty-seven children with asthma, 6 to 14 years of age, living in the city of Rome, were enrolled as outpatients. They were subjected to Skin Prick Tests (SPT), underwent spirometry and filled out the Pediatric Asthma Quality of Life Questionnaire (PAQLQ). One hundred and eleven children were diagnosed with intermittent asthma, 12 (10%) with mild asthma, and four with moderate persistent asthma. Ninety-six children had a positive SPT. The mean total score of QoL, obtained from the questionnaire, was 5.4 (±1.2 SD). Two QoL groups were created. Children with total QoL score
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- 2014
46. The growth of Streptococcus mutans in different milks for infant feeding
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Anna Maria Zicari, Lucia Leonardi, Francesca Occasi, Francesca Berlutti, Ilaria Ernesti, Marzia Duse, and Antonella Polimeni
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Pharmacology ,biology ,Milk, Human ,Inoculation ,Bifidobacterium lactis ,Immunology ,food and beverages ,Bacterial growth ,biology.organism_classification ,Streptococcus mutans ,Infant Formula ,Lactobacillus reuteri ,Food Microbiology ,Immunology and Allergy ,Colonization ,Infant Food ,Food science ,Infant feeding ,Incubation ,Food Analysis - Abstract
After birth various bacterial species, mainly streptococci, colonize the oral cavity and are frequently isolated from carious lesions in children. Previous studies suggest that an earlier colonization of a child's mouth by cariogenic organisms might be related to a higher risk of caries. The aim of this study is to assess the influence of different milks for infant feeding on the growth of Streptococcus mutans (SM) colonies. Three human milk samples from three different mothers and five infant formulas were tested. To prepare the bacterial inoculum, SM was grown in Brain Heart Infusion broth for 18 hours at 37°C in microaerophilic atmosphere. The growth of SM was determined immediately after the inoculation of milks (T0) and after 24 hours (T24) of incubation. After 24 hours of incubation (ΔT= CFUs/ml at T24 CFUs/ml at T0) the bacterial growth changes were different among milks. Among the complementary milks tested, ΔT of formulas supplemented with Lactobacillus reuteri and with Bifidobacterium lactis was lower than those of non-supplemented formula. In conclusion, on the basis of the reduced SM growth in milks supplemented with probiotics, we may speculate that these formulas have a preventive effect on the development of caries in children.
- Published
- 2014
47. A cost-neutral energy strategy incorporating renewables and energy-efficiency for the city of Manaus in Brazilian Amazonia
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Maria-Lucia Leonardi, Ashok J. Gadgil, Gilberto De Martino Jannuzzi, and Ennio Peres da Silva
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business.industry ,Natural resource economics ,Energy consumption ,Management, Monitoring, Policy and Law ,Energy policy ,Renewable energy ,Energy conservation ,General Energy ,Environmental protection ,Environmental science ,Energy supply ,business ,Energy source ,Energy economics ,Efficient energy use - Abstract
We report an assessment of maximum feasible cost-neutral reduction in the environmental impacts of energy demand growth in the city of Manaus, Brazil. Manaus is a rapidly growing city located in the heart of the Amazonian rainforest (1500 km of rainforest in all directions!). Owing to its geographical isolation, it is attractive to explore the extent to which modern renewable and energy efficiency technologies can move it towards energy sustainability – or at least significantly reduce or delay the next expansion of its conventional energy supply project – without increasing the net present value (NPV) of the energy scenario from the societal perspective. Our results, based on collection and analysis of new and existing data, show that on a technical fix basis (ie, without political support for broader policy changes for reducing conventional energy use), about a quarter of conventional energy consumption for the year 2002 can be cost-neutrally replaced with efficiency and renewables.
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- 1999
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48. TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY: INTRAVENOUS IMMUNOGLOBULIN AS FIRST LINE THERAPY
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Loretta Antonetti, Marzia Duse, P. Smacchia, G. Giancane, Metello Iacobini, and Lucia Leonardi
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Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Immunology ,Immunoglobulins ,Disease ,hypogammaglobulinemia ,intravenous immunoglobulin ,primary immunodeficiency ,recurrent infection ,Hypogammaglobulinemia ,Agammaglobulinemia ,hemic and lymphatic diseases ,medicine ,Immunology and Allergy ,Humans ,Transient hypogammaglobulinemia of infancy ,Antibiotic prophylaxis ,IgG Deficiency ,Child ,Immunodeficiency ,Pharmacology ,biology ,business.industry ,Vaccination ,Immunoglobulins, Intravenous ,Infant ,medicine.disease ,Child, Preschool ,Primary immunodeficiency ,biology.protein ,Female ,Antibody ,business - Abstract
IVIG (Intravenous immunoglobulin) have significantly improved the prognosis and the quality of life of immunodeficient patients and are routinely used as substitutive therapy. Transient hypogammaglobulinemia of infancy (THI) is a primary humoral immunodeficiency characterized by a transient IgG defect, but is not considered as a disease that justifies substitutive treatment and thus the use of IVIG as an alternative to antibiotic prophylaxis remains controversial also in symptomatic children. We treated 13 THI children severely symptomatic with IVIG (400mg/kg/every 3 weeks) for a limited period (2 or 3 months) and followed them for 1 to 3 years. During the follow-up, the frequency of overall infections decreased approximately tenfold (from 0.39 to 0.047 infection/month per child) and no severe infections were reported. Although this study lacks untreated controls, the results suggest that the observed clinical improvement is correlated to IVIG therapy. Furthermore, our study suggests that the infused IVIG have no long-term effect on endogenous IgG production and do not lengthen the immunodeficiency condition since all children produced a normal amount of specific IgG in response to vaccination carried out 5 months after the end of infusions. In conclusion, our results suggest that IVIG may stop the vicious circle of infection-immunodeficiency and should be considered as a first line therapy in highly symptomatic THI children.
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- 2010
49. The role of rhinomanometry after nasal decongestant test in the assessment of adenoid hypertrophy in children
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Luciana Indinnimeo, G. De Castro, Marzia Duse, Anna Maria Zicari, A. Rugiano, Lucia Leonardi, Giancarlo Tancredi, G. Ragusa, S. Caggiano, and Camilla Celani
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Pulmonary and Respiratory Medicine ,Nasal decongestant ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Rhinomanometry ,business ,medicine.disease ,Dermatology ,Adenoid hypertrophy ,Test (assessment) - Published
- 2011
- Full Text
- View/download PDF
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