A5083402064- Inflammasome and immune disorders
- Autoimmune and Inflammatory Disorders Research
- interferon and immune responses
- Systemic Lupus Erythematosus Research
- Viral Infections and Vectors
- Adolescent and Pediatric Healthcare
- Streptococcal Infections and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Immunodeficiency and Autoimmune Disorders
- Retinal and Optic Conditions
- Kawasaki Disease and Coronary Complications
- Organic Food and Agriculture
- Vasculitis and related conditions
- Endoplasmic Reticulum Stress and Disease
- Inflammatory Myopathies and Dermatomyositis
- Galectins and Cancer Biology
- Sarcoidosis and Beryllium Toxicity Research
- Liver Diseases and Immunity
- Cardiac Structural Anomalies and Repair
- Autoimmune Neurological Disorders and Treatments
- Agriculture Sustainability and Environmental Impact
- IL-33, ST2, and ILC Pathways
- Skin and Cellular Biology Research
- Osteomyelitis and Bone Disorders Research
- Gout, Hyperuricemia, Uric Acid
National Institutes of Health
2021-2024
National Human Genome Research Institute
2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2013-2023
National Institute of Allergy and Infectious Diseases
2020-2023
University of Milan
2016-2022
Hacettepe University
2019
Gazi University
2019
University of London
2018
Scuola Superiore Sant'Anna
2018
SOAS University of London
2018
Achieving international food security requires improved understanding of how trade networks connect countries around the world through import-export flows commodities. The properties are still poorly documented, especially from a multi-network perspective. In particular, nothing is known about multi-network's community structure. Here we find that individual crop-specific layers have densely connected trading groups, consistent characteristic over period 2001–2011. Further, characterized by...
Mutations in genes coding for proteasome subunits and/or assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Patients CANDLE/PRAAS present mostly chronically type I interferon scores that emerge a consequence of increased proteotoxic stress by mechanisms are not fully understood. Here, we report on five unrelated...
Gain-of-function mutations in STING1 cause the monogenic interferonopathy, SAVI, which presents with early-onset systemic inflammation, cold-induced vasculopathy and/or interstitial lung disease. We identified 5 patients (3 kindreds) predominantly peripheral vascular disease who harbor 3 novel variants, p.H72N, p.F153V, and p.G158A. The latter two were predicted by a previous cryo-EM structure model to STING autoactivation. p.H72N variant exon 3, however, is first SAVI-causing transmembrane...
Introduction: Familial Mediterranean fever (FMF) is a genetic disease characterized by recurrent febrile episodes and mostly the inflammation of serous membranes.We presented our case whom with acute myositis was diagnosed as FMF.Results: A six year 5 mounth old girl complained severe pain in her right leg gait while walking for period one week.It learned from history that ankle swelled hiperemic macular rash were determined on lateral malleol area three years ago phase reactants elevated at...
Chorea is a movement disorder that may be found in children due to several causes. Here we focus especially on Systemic Lupus Erythematosus associated chorea. First outline its epidemiology, hypothesized pathogenesis, clinical presentation and treatment, then report four significant cases, which represent well the extreme variability of set symptoms accompany lupus Our experience, according literature, suggests choreic movements child should alert pediatrician lead him investigate potential...
Background Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these on allergic inflammation unknown. Objectives We investigated allergic, immunological and clinical phenotypes FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor-associated HIDS (hyper-IgD PAPA (pyogenic arthritis, pyoderma gangrenosum acne), DADA2 (deficiency adenosine deaminase 2), HA20...
Early identification of high-risk patients is essential to stratify treatment algorithms Kawasaki disease (KD) and appropriately select at risk for complicated who would benefit from intensified first-line treatment. Several scores have been developed validated in Asian populations but shown low sensitivity predicting intravenous immunoglobulin (IVIG) resistance non-Asian populations. We sought methods predict the need secondary after initial IVIG populations.We conducted a retrospective,...
Behcet's disease (BD) is a rare vasculitis characterized by multisystemic inflammation. Central nervous system (CNS) involvement and heterogeneous, particularly in the pediatric population. A diagnosis of neuro-Behcet could be highly challenging, especially if neurological manifestations precede other systemic features; however, its timely definition crucial to prevent long-term sequelae. In this study, we describe case girl who, at 13 months age, presented with first episode encephalopathy...
<h3>Background</h3> Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with early onset and poor prognosis. Given its rarity unspecific symptoms, MA diagnosis may be challenging in newborn. To our knowledge, interstial lung involvement has never been described as feature MKD. <h3>Objectives</h3> We report case a newborn affected by MKD characterized interstitial disease. <h3>Methods</h3> The patient underwent laboratory radiology evaluation clinically...
Juvenile Systemic Lupus Erythematosus (JSLE) is an autoimmune disease characterized by multiple organ involvement. The nervous system often affected, with a higher frequency in children than adults.
Achieving international food security requires improved understanding of how trade networks connect countries around the world through import-export flows commodities. The properties are still poorly documented, especially from a multi-network perspective. In particular, nothing is known about community structure networks, which key to major disruptions or 'shocks' would impact global system. Here we find that individual layers this network have densely connected trading groups, consistent...
An association between infectious diseases and macrophage activation syndrome (MAS) has been reported, yet the exact role of infection in MAS development is still unclear. Here, a retrospective analysis clinical records patients with rheumatic complicated who were treated pediatric tertiary care center 2011 2020 was performed. Any documented within 30 days preceding onset reported. Out 125 children follow-up for systemic diseases, 12 developed MAS, total 14 episodes. One patient experienced...
Childhood vasculitis is a group of conditions that are defined as the presence blood vessel inflammation, and they grouped in base size vessels involved. In 2008 were presented PRES revised classification criteria for childhood vasculitis.
Ultrasound (US) is a powerful tool for the assessment of joint disease in children with juvenile idiopathic arthritis (JIA) and has been shown to be more accurate than clinical examination detecting synovitis. Parent’s proxy-report involvement potentially usefulto obtain information on parent’s perception burden child’s may serve as surrogate physician’s articular examination. However, it unclear whether parents are reliable reporters their children’s disease.
<h3>Background</h3> Rheumatic fever (RF) is an autoimmune phenomenon that occurs after infection with group A streptococcus. Inflammation of the joints, heart and brain results in common clinical manifestation arthritis, carditis chorea. The major morbidity mortality result from rheumatic disease (RHD). <h3>Objectives</h3> To retrospectively evaluate demographic features, characteristics outcome among RF/RHD cases admitted our Hospital last 35 years. <h3>Methods</h3> Clinical instrumental...
<h3>Background</h3> Harlequin Ichthiosis ( HI) is a rare autosomical recessive congenital disease, due to mutations of gene ABCA12.The estimated incidence approximately 1 in 300,000 births, and 200 cases have been reported worldwide. Typical manifestations the disease at birth are presence hyperkeratotic plates with erythematous fissures, ectropion (eversion lower eyelids) eclabium lips), rudimentary ears nasal hypoplasia, articular contractures. Babies who survive into infancy tend loose...