Publications by authors named "Giorgio Costagliola"

17 Publications

  • Page 1 of 1

The brain-heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention.

Ann Clin Transl Neurol 2021 Jul 28;8(7):1557-1568. Epub 2021 May 28.

IRCCS Istituto Giannina Gaslini, Genova, Italy.

The influence of the central nervous system and autonomic system on cardiac activity is being intensively studied, as it contributes to the high rate of cardiologic comorbidities observed in people with epilepsy. Indeed, neuroanatomic connections between the brain and the heart provide links that allow cardiac arrhythmias to occur in response to brain activation, have been shown to produce arrhythmia both experimentally and clinically. Moreover, seizures may induce a variety of transient cardiac effects, which include changes in heart rate, heart rate variability, arrhythmias, asystole, and other ECG abnormalities, and can trigger the development of Takotsubo syndrome. People with epilepsy are at a higher risk of death than the general population, and sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Although the cause of SUDEP is still unknown, cardiac abnormalities during and between seizures could play a significant role in its pathogenesis, as highlighted by studies on animal models of SUDEP and registration of SUDEP events. Recently, genetic mutations in genes co-expressed in the heart and brain, which may result in epilepsy and cardiac comorbidity/increased risk for SUDEP, have been described. Recognition and a better understanding of brain-heart interactions, together with new advances in sequencing techniques, may provide new insights into future novel therapies and help in the prevention of cardiac dysfunction and sudden death in epileptic individuals.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.51382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283165PMC
July 2021

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

Clin Exp Immunol 2021 May 18. Epub 2021 May 18.

Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

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

Download full-text PDF

Source
http://dx.doi.org/10.1111/cei.13620DOI Listing
May 2021

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

Pediatr Rheumatol Online J 2021 May 4;19(1):68. Epub 2021 May 4.

Section of Rheumatology and Clinical Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 67, 56126, Pisa, Italy.

Background: SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestations in severe coronavirus disease 2019 (COVID-19). As a consequence, different drugs active on the immune system have been proposed for the treatment of the disease in adults.

Role Of The Anti-rheumatic Agents In Children: Children are more likely to develop a mild disease course, as the severe form of COVID-19 is identified in less than 5% of the pediatric patients. Moreover, in children a peculiar disease phenotype, defined as multisystem inflammatory syndrome in children (MIS-C) is observed, representing the most severe expression of the inflammatory dysregulation caused by SARS-CoV-2. The limited experience with the severe pediatric COVID-19 and MIS-C does not allow conclusions about the role of the immune pharmacological approach, and therefore the treatment of these conditions represents a considerable clinical challenge. The use of chloroquine, hydroxychloroquine, and colchicine in the early disease stages is not sufficiently supported by evidence, and there is an increasing interest in the role of biologic agents, including anti-IL-1 and anti-IL-6 agents, in the prevention and treatment of the severe manifestations of COVID-19.

Conclusion: The therapeutic approach to pediatric COVID-19 is multidisciplinary, and anti-rheumatic agents have a prominent role in severe disease. This paper reviews the rationale for the use of anti-rheumatic agents in pediatric COVID-19 and MIS-C and the clinical experience with the single drugs. Finally, the areas of potential improvement in the use of anti-rheumatic agents, including the optimization of the drug choice and the timing of administration, are discussed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12969-021-00559-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094984PMC
May 2021

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

Epilepsy Res 2021 May 18;172:106588. Epub 2021 Feb 18.

Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Viale Golgi 19, 27100 Pavia, Italy.

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

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2021.106588DOI Listing
May 2021

Could nutritional supplements act as therapeutic adjuvants in COVID-19?

Ital J Pediatr 2021 Feb 15;47(1):32. Epub 2021 Feb 15.

Clinical and Experimental Medicine, Division of Pediatrics, University of Pisa, Via Roma 57, 56126, Pisa, PI, Italy.

Background: The role of the immune system and inflammatory response in the pathogenesis of the severe manifestations of coronavirus disease 2019 (COVID-19) is well known. Currently, different therapies active on the immune system are used for the management of COVID-19. The involvement of the immune system also opens the opportunity for the use of nutritional supplements with antimicrobial and immunomodulatory activity.

Main Aspects: Nutritional supplements with antimicrobial and immunomodulatory activity are promising therapeutic adjuvants for the treatment of COVID-19, and also for the prevention of viral spreading. In particular, the role of vitamin D, probiotics, lactoferrin, and zinc is of significant clinical interest, although there are only a few data on their use in COVID-19 patients. Their molecular actions, together with the results of studies performed on other respiratory infections, strongly suggest their potential utility in COVID-19. This article discusses the main properties of these nutritional supplements and their potential applicability in the prevention and treatment of COVID-19.

Conclusion: The supplementation with vitamin D, probiotics, lactoferrin and zinc could have a role both in preventing SARS-CoV-2 infection and in mitigating the clinical course in infected patients, contributing in the prevention of immune-mediated organ damage.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-021-00990-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7883952PMC
February 2021

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

Immun Inflamm Dis 2021 06 10;9(2):331-339. Epub 2021 Feb 10.

Division of Pediatrics, Department of Clinical and Experimental Medicine, Section of Rheumatology and Clinical Immunology, University of Pisa, Pisa, Italy.

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

Download full-text PDF

Source
http://dx.doi.org/10.1002/iid3.404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8014746PMC
June 2021

The Challenge of Managing Children With Periodic Fever Syndromes in the Era of COVID-19.

Front Pediatr 2020 6;8:620621. Epub 2021 Jan 6.

Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genoa, Italy.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2020.620621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815684PMC
January 2021

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.

J Clin Med 2020 Oct 17;9(10). Epub 2020 Oct 17.

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, 25123 Brescia, Italy.

Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients. Recurrent sinopulmonary infections were the most common clinical feature at onset of disease. Seven patients presented lymphoproliferative disease, at onset or during follow-up, one of which resembled hemophagocytic lymphohistiocytosis (HLH). Genetic analysis of the gene revealed three novel mutations: functional testing confirmed their activating nature. In the remaining patients, the previously reported variants .E1021K ( = 4) and .E525A ( = 1) were identified. Six patients were started on immunoglobulin replacement treatment (IgRT). One patient successfully underwent hematopoietic stem cell transplantation (HSCT), with good chimerism and no GVHD at 21 months post-HSCT. APDS-1 is a combined immune deficiency with a wide variety of clinical manifestations and a complex immunological presentation. Besides IgRT, specific therapies targeting the PI3Kδ pathway will most likely become a valid aid for the amelioration of patients' clinical management and their quality of life.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9103335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603210PMC
October 2020

Dietary Interventions and Nutritional Factors in the Prevention of Pediatric Asthma.

Front Pediatr 2020 18;8:480. Epub 2020 Aug 18.

Section of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Asthma is the most frequent chronic disease in children, and its pathogenesis involves genetic, epigenetic, and environmental factors. The rapid rise in the prevalence of asthma registered over the last few decades has stressed the need to identify the environmental and modifiable factors associated with the development of the disease. In particular, there is increasing interest in the role of modifiable nutritional factors specific to both the prenatal and post-natal early life as, during this time, the immune system is particularly vulnerable to exogenous interferences. Several dietary factors, including maternal diet during pregnancy, the duration of breastfeeding, the use of special milk formulas, the timing of the introduction of complementary foods, and prenatal and early life supplementation with vitamins and probiotics/prebiotics, have been addressed as potential targets for the prevention of asthma. In this review, we outline recent findings on the potential role of prenatal and perinatal dietary and nutritional interventions for the primary prevention of pediatric asthma. Moreover, we addressed unmet needs and areas for future research in the prevention of childhood-onset asthma.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2020.00480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461983PMC
August 2020

Behçet's Disease in Children: Diagnostic and Management Challenges.

Ther Clin Risk Manag 2020 11;16:495-507. Epub 2020 Jun 11.

Laboratory of Immunology, Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Pisa, Pisa, Italy.

Behçet's Disease (BD) is an inflammatory disease of unknown etiology with multisystemic involvement, being the main clinical manifestations represented by recurrent oral and genital ulcerations and uveitis. The disease has typically a chronic-relapsing course and may cause significant morbidity and mortality due to eye, vascular and neurological involvement. Although BD is more frequently diagnosed in adulthood, the disease onset can also be in pediatric age. Pediatric-onset BD is commonly featured by an incomplete clinical picture, and therefore the diagnosis represents a considerable clinical challenge for the physicians. The first classification criteria for pediatric BD, based on a scoring system, have been proposed few years ago. This work focuses on the main difficulties concerning both the diagnostic approach and the treatment of BD in pediatric age. The recommendation for the treatment of pediatric BD has been recently updated and allowed a considerable improvement of the therapeutic strategies. In particular, the use of anti-TNFα drugs as a second-line option for refractory BD, and as a first-line treatment in severe ocular and neurological involvement, has demonstrated to be effective in improving the outcome of BD patients. The knowledge about the molecular pathogenesis is progressively increasing, showing that BD shares common features with autoimmune and autoinflammatory disorders, and thus leading to the use of new biologic agents targeting the main mediators involved in the determination of BD. Anti-IL-17, anti-IL-23, anti-IL-1 and anti-IL-6 agents have shown promising results for the treatment of refractory BD in clinical trials and will represent an important alternative for the therapeutic approach to the disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2147/TCRM.S232660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295757PMC
June 2020

Practical Approach to Children Presenting with Eosinophila and Hypereosinophilia.

Curr Pediatr Rev 2020 ;16(2):81-88

Section of Paediatrics, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

Eosinophilia is not a rare finding in clinical practice, and often poses problems in terms of etiologic research and differential diagnosis. Peripheral eosinophilia is defined by a blood eosinophil count > 500 cells/μL. It is classified into mild (500-1500 cells/μl), moderate (1500-5000 cells/μl) and severe for an eosinophil count > 5000 cells /μl. The term "hypereosinophilia" defines a condition characterized by a blood eosinophil count >1500 cells/μl in at least two consecutive tests made with a minimum of a 4-week interval. The causes of eosinophilia are various, and can be summarized by the acronym "APLV" which refers to Allergic disorders, Parasitic infections, Leukemia/ Lymphomas (and solid tumors) and Vasculitis-Immunodeficiency diseases, with allergic disorders and parasitic infections representing the most commonly identified causes. Allergic disorders are usually associated with mild eosinophilia, whereas values >20.000 cell/μl are highly suggestive for myeloproliferative disorders. Eosinophils may also be directly responsible for organ damage, mainly at cardiac, pulmonary and cutaneous level, deriving from the release of the granule products, of lipidic mediators and cytokines. Therefore, in the physician's approach to a patient with persistent hypereosinophilia, it is also important to investigate the presence of organ involvement. In this review, we propose a diagnostic algorithm for children presenting with either blood eosinophilia or hypereosinophilia. This algorithm focuses on the patient's history and clinical manifestations as the first step and the level and persistence of blood eosinophilia as the second, and this can help the physician to identify patients presenting with an elevated blood eosinophil count that need further laboratory or instrumental investigations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2174/1573396315666191114150438DOI Listing
March 2021

Refractory Chronic Spontaneous Urticaria Treated With Omalizumab in an Adolescent With Common Variable Immunodeficiency.

Front Immunol 2019 17;10:1700. Epub 2019 Jul 17.

Section of Paediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Chronic spontaneous urtcaria (CSU) can represent the leading sign of a wide spectrum of systemic diseases, including primary immunodeficiencies. We describe the case of a young adult female with coexisting CSU and common variable immunodeficiency (CVID) successfully treated with omalizumab. The patient, with a history of recurrent respiratory infections during childhood, was referred to clinical attention due to the development of refractory CSU. During the diagnostic workup for the research of secondary causes of urticaria, an immunological assessment was performed, showing markedly reduced levels of IgG and IgM, poor antibody response against vaccinating antigens in absence of a T cellular deficiency. Therefore, the diagnosis of CVID was posed. Despite the immunoglobulin replacement and a trial with intravenous immunoglobulin at immunomodulatory dosage, the patient continued to experience severe urticaria, with significant impairment in the quality of life. After 2 years from the diagnosis of CVID, a treatment with omalizumab was started, showing complete remission of cutaneous symptoms after the first injection. The drug was well-tolerated, and the patient did not experience adverse effects during a 12-months follow-up.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2019.01700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6652742PMC
September 2020

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists.

Front Pediatr 2019 5;7:277. Epub 2019 Jul 5.

Laboratory of Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

To show the different physician's approaches and the difficulties in the diagnosis and management of the Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome, and to quantify the impact of the disease on the families and on the healthcare system. Retrospective analysis on 40 patients diagnosed with PFAPA, focusing on the clinical phenotype, the process of diagnosis, and the management of the febrile episodes. The direct and indirect annual economic cost related to PFAPA in the period preceding the diagnosis were also investigated. The median age of patients at disease onset was 1.75 years and the median time to diagnosis was 14.5 months. During the diagnostic process, only 45% of our patients was firstly addressed to rheumatologic consultation, 32.5% to otorinolaryngologist (ORL), and 22.5% to immunologic consultation. Genetic investigations were performed in the 20% of the cohort. Overall population experienced a median of 60 annual days of fever and, during the critical phase, 40% of patients received more than 5 cycles of antibiotic/year. Seventy five percent required laboratory investigations, 18 (45%) needed to access to emergency department and 15 (37.5%) have been hospitalized. The annual mean direct cost was 1659.5 € for each patient, and the estimated mean indirect cost was 5811.6 € for each parent. Despite a benign clinical course, PFAPA syndrome is associated with a significant impact on the patients, their families and the national healthcare system. PFAPA patients require a large number of medical examinations and laboratory or instrumental investigations during the diagnostic approach and often receive inappropriate treatments. Therefore, we suggest the necessity of a greater awareness and knowledge of the disease among primary care physicians and, finally, of the adoption of more specific diagnostic criteria.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2019.00277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624732PMC
July 2019

Prevention of Food Allergy: The Significance of Early Introduction.

Medicina (Kaunas) 2019 Jun 30;55(7). Epub 2019 Jun 30.

Department of Clinical and Experimental Medicine, Section of Paediatrics, University of Pisa, 56126 Pisa, Italy.

Over the last two decades, the prevalence of food allergies has registered a significant increase in Westernized societies, potentially due to changes in environmental exposure and lifestyle. The pathogenesis of food allergies is complex and includes genetic, epigenetic and environmental factors. New evidence has highlighted the role of the intestinal microbiome in the maintenance of the immune tolerance to foods and the potential pathogenic role of early percutaneous exposure to allergens. The recent increase in food allergy rates has led to a reconsideration of prevention strategies for atopic diseases, mainly targeting the timing of the introduction of solid foods into infants' diet. Early recommendation for high atopy risk infants to delay the introduction of potential food allergens, such as cow's milk, egg, and peanut, until after the first year of life, has been rescinded, as emerging evidence has shown that these approaches are not effective in preventing food allergies. More recently, high-quality clinical trials have suggested an opposite approach, which promotes early introduction of potential food allergens into infants' diet as a means to prevent food allergies. This evidence has led to the production of new guidelines recommending early introduction of peanut as a preventive strategy for peanut allergy. However, clinical trials investigating whether this preventive dietary approach could also apply to other types of food allergens have reported ambiguous results. This review focuses on the latest high-quality evidence from randomized controlled clinical trials examining the timing of solid food introduction as a strategy to prevent food allergies and also discusses the possible implications of early complementary feeding on both the benefits and the total duration of breastfeeding.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/medicina55070323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681183PMC
June 2019

Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood.

Front Pediatr 2018 16;6:144. Epub 2018 May 16.

Laboratory of Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Pediatric systemic lupus erythematosus (pSLE) is a rare condition, representing approximately 10% of SLE cases. The aim of this study was to identify variables to improve the diagnostic awareness and management of pSLE patients. This retrospective study included 25 patients diagnosed with pSLE and followed at the University of Pisa. We collected data about clinical profile at disease onset and during a long-term follow-up, including disease activity, organ damage development, and treatments received. The mean patient age at disease onset was 14.6 ± 1.6 years, and the mean follow-up period was 14.17 ± 8.04 years. The most common initial manifestations were arthritis, malar rash, and cytopenias. The median time to diagnosis since the first symptoms was 6 months, and was significantly longer in patients with hematological onset (54 months). During follow-up, the number of patients with renal involvement showed a significant increase, from 36% at diagnosis to 72.2% after 10 years of disease evolution. Patients who developed chronic organ damage maintained a higher time-averaged disease activity during follow-up and received a significantly higher dose of corticosteroids. Patients with immune cytopenia represent a group deserving strict clinical follow-up for the risk of evolution to SLE. Intense surveillance of renal function, early treatment and steroid-sparing strategies should be strongly considered in the management of pSLE patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2018.00144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964827PMC
May 2018

Typical Kawasaki Disease Presenting With Pancreatitis and Bilateral Parotid Gland Involvement: A Case Report and Literature Review.

Front Pediatr 2018 11;6:90. Epub 2018 Apr 11.

Section of Pediatrics Immunology and Rheumatology, Department of Pediatrics, University of Pisa, Pisa, Italy.

We describe the case of a 3-year child in which pancreatic and parotid gland involvement preceded the development of the classical clinical phenotype of a typical Kawasaki disease (KD). The child was referred to the Emergency Department with a story of 3 days of continuous fever associated with abdominal pain and bilaterally swelling in the parotid regions; laboratory evaluation identified markedly increased levels of total amylase, pancreatic amylase, lipase, and transaminase, and diagnosis of pancreatitis was posed. After 9 days of fever and persistence of the clinical features, the classical signs of KD appeared, and the child was treated with intravenous immunoglobulins (IVIG), showing a dramatic response with complete resolution of the clinical picture. In this work, we reviewed the literature about gastrointestinal (GI) symptoms in KD, focusing on pancreatic and hepatic involvement. This analysis highlighted that, in case of fever associated with pancreatic inflammation, KD must be considered in the spectrum of differential diagnosis, and that GI involvement in KD is frequently associated with an incomplete response to IVIG treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2018.00090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904203PMC
April 2018

The Centenary of Immune Thrombocytopenia-Part 2: Revising Diagnostic and Therapeutic Approach.

Front Pediatr 2017 21;5:179. Epub 2017 Aug 21.

Clinical Immunology and Allergy Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Primary immune thrombocytopenia (ITP) is the most common cause of thrombocytopenia in children and adolescents and can be considered as a paradigmatic model of autoimmune disease. This second part of our review describes the clinical presentation of ITP, the diagnostic approach and overviews the current therapeutic strategies. Interestingly, it suggests an algorithm useful for differential diagnosis, a crucial process to exclude secondary forms of immune thrombocytopenia (IT) and non-immune thrombocytopenia (non-IT), which require a different therapeutic management. Advances in understanding the pathogenesis led to new therapeutic targets, as thrombopoietin receptor agonists, whose role in treatment of ITP will be discussed in this work.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2017.00179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566994PMC
August 2017
-->