Research SectionsDevelopmental Age Section

Developmental Age Section

Developmental Age Section – Viale Pieraccini, 24 50139 Florence

Prof. SIMONE PRATESI

Description of research activities

Dr. IURI CORSINI

Description of research activities

Prof. RENZO GUERRINI
Description of research activities
Pediatric epilepsies and disorders of brain development constitute the main clinical research area.
Funded projects
Drug treatment and neuroprotection in hypoxic–ischemic brain injury and neonatal–infantile seizures: 1) Pharmacokinetic and dose-finding study using a new tandem mass spectrometry micromethod; 2) Efficacy and tolerability profile; 3) Experimental in vitro and in vivo animal models. (Regional Health Research Program 2009) – Funding body: Tuscany Region

Rare disease: use of clinical trial simulation for the choice and optimization of study design (Cresim) – Funding bodies: European Union and Italian Ministry of Health

Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development (TUB-GENCODEV) (Era-NET for research programmes on rare diseases) – Funding body: Istituto Superiore di Sanità

Development of ultra–high-field MRI diagnostic technology for characterization and post-surgical/post–chemo-radiotherapy monitoring of pediatric brain tumors – Funding body: Fondazione Cassa di Risparmio di Pisa

Development and Epilepsy – Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult-to-treat Epilepsy (DESIRE). FP7-2013 INNOVATION. Project Coordinator. Funding body: European Community.

Prof. GIANPAOLO DONZELLI
Description of research activities
Fetal Programming, Rare Pediatric Diseases, Perinatal Bioethics, Solid Organ Transplantation and Pregnancy
Funded projects
Funded project: RINET (Italian Birth and Transplant Registry)
Istituto Superiore di Sanità – National Transplant Center

Prof. PAOLO LIONETTI
Description of research activities
Evidence-based European guidelines for the management of Inflammatory Bowel Disease (IBD)

Composition of the intestinal microbiota and yeasts in IBD

Effect of diet on the microbiota in pediatric populations living in different environments (Africa–Europe)

Diagnostics for celiac disease and IBD

Funded projects

University of Florence funds (2008–2012)
ECRF contribution for IBD research
Targeted research IRCCS Burlo Garofalo
Enteral Nutrition Nestlé research contribution
TEDD Project, Tuscany Region, Menarini residual funds
PIR Tuscany Region – Support to Pediatrics at Nanoro Hospital (Burkina Faso)

Prof. GABRIELE SIMONINI

Description of research activities. Rheumatology research focuses on chronic inflammatory diseases in developmental age. Juvenile idiopathic arthritis, Kawasaki disease, uveitis, pediatric connective tissue diseases, and autoinflammatory syndromes are the main conditions investigated. Ongoing collaborations include the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Childhood Arthritis and Rheumatology Research Alliance (CARRA).

KAWASAKI SYNDROME: Identification of pathogenetic inflammatory mechanisms and biohumoral markers of coronary involvement. Scientific lead: Prof. Gabriele Simonini.

Kawasaki disease is an inflammatory vasculitis of still-unknown etiology which, if not treated in time, can cause significant coronary organ damage. It is the second most frequent childhood vasculitis.

It is hypothesized that for unknown reasons the complex system controlling inflammation—known as the inflammasome—becomes uncontrollably activated.

There is currently no diagnostic gold standard; diagnosis is based on clinical criteria.

It is important to define the presence of specific inflammatory mechanisms required in the disease process and, more importantly, to identify biochemical markers early for prompt diagnosis and early identification of subjects at risk of coronary involvement.

Identifying such factors would have clear implications for a more appropriate and specific therapeutic approach. Detecting these specific indicators would allow personalization of the patient’s clinical and therapeutic pathway. To further identify biohumoral risk markers of coronary involvement in patients with Kawasaki disease—within a project led by Professor Gabriele Simonini—we seek availability of a liberal contribution dedicated to strengthening these research activities.

Those interested can contribute to the project. For information and clarifications: Rita Parrini, NEUROFARBA Department, University of Florence, NIC 3 – 1st floor – room 110, Largo Brambilla 3, 50134 Florence, Tel. 0552751857, Mobile 3667820552, email: rita.parrini@unifi.it.

PROJECT “TRANSITION FROM PEDIATRIC CARE TO ADULT MEDICINE FOR PATIENTS WITH AUTOINFLAMMATORY SYNDROMES”

The prevalence of chronic autoinflammatory diseases is increasing globally. In many cases, onset occurs in childhood and accompanies the patient into adulthood. This makes the transition of adolescent patients from pediatric care to adult medicine (transitional care, TC) a priority in the current healthcare scenario.

The TC process can have a significant clinical and psychological impact on patients and families, given the considerable differences between pediatric management—highly supportive and focused on growth and development—and adult medicine, which is aimed at a patient who is independent and autonomous in managing the disease, including aspects related to reproduction. Moreover, the disease itself—especially if rare—complicates adolescent development, interfering with concerns about physical appearance and relationships with peers and adults, and disrupting processes of self-affirmation and emancipation.

For these reasons, TC should be regarded as a clinical and psychosocial process that should take place gradually, in a guided and planned manner, ensuring continuity of care both from the organizational standpoint (different levels of care, referral hospitals) and from the standpoint of interpersonal networks (family, physicians, etc.).

With regard to autoinflammatory diseases, the complexity and heterogeneity of these conditions make it necessary to identify specific areas of expertise, define shared decision-making approaches, and coordinate the different teams of specialists.

In this context, the Interdisciplinary Internal Medicine Unit (SOD) of the Careggi University Hospital (Florence) and the Rheumatology Unit (SOSa) of the Meyer Children’s University Hospital (Florence) have outlined a project to implement a TC pathway for adolescent patients with autoinflammatory diseases, with the aim of:

• Aligning skills and approaches to care between the pediatric rheumatology team at Meyer Hospital and the adult medical team of the Interdisciplinary Internal Medicine SOD at Careggi University Hospital, by implementing a specific Transition Preparation Training (TPT).
• Planning and completing the transition project for a pilot group of patients with autoinflammatory diseases.
• Assessing the impact of TC on disease control and patients’ quality of life.

The project will last 12 months, of which 3 will be dedicated to TPT, and will be conducted jointly by staff from the Interdisciplinary Internal Medicine SOD of the Careggi University Hospital (Florence) and the Rheumatology SOSa of the Meyer Children’s University Hospital (Florence).

For the implementation of the project—whose pediatric lead is Professor Gabriele Simonini—we seek funding for a 12-month research grant of 24,000 for a graduate in Medicine and Surgery with a specialization in Pediatrics, who will carry out activities at the NEUROFARBA Department.

Those interested can contribute to the project by September 30, 2022. For information and clarifications: Rita Parrini, NEUROFARBA Department, University of Florence, NIC 3 – 1st floor – room 110, Largo Brambilla 3, 50134 Florence, Tel. 0552751857, Mobile 3667820552, email: rita.parrini@unifi.it.

• Active projects:

JIA classification study, in collaboration with PRINTO

OBSIDIAn – Originator to BioSImilar Drug switch in juvenile Idiopathic Arthritis

The comparison of STep-up and step-down therapeutic strategies in childhood ARthritiS trial (STARS), in collaboration with PRINTO

Development of axial juvenile spondyloarthritis (AxJSpA) classification criteria, in collaboration with Rheumatology Unit, Children’s Hospital of Philadelphia (USA)

FROST: FiRst line Options for Systemic JIA Treatment, in collaboration with Ospedale Bambino Gesù (Italy)

Analysis of the remission potential of canakinumab as first-line treatment for systemic juvenile idiopathic arthritis

Risk score of Macrophage Activation Syndrome in patients with systemic Juvenile Idiopathic Arthritis, in collaboration with Ospedale Bambino Gesù (Italy)

Chronic nonbacterial osteomyelitis international registry, in collaboration with the Rheumatology Unit, Seattle Children’s Hospital (USA)

Development and validation of classification criteria for chronic nonbacterial osteomyelitis in children using a data-driven approach, in collaboration with the Rheumatology Unit, Seattle Children’s Hospital (USA)

International registry of JIA-Uveitis and idiopathic uveitis

KD-CAAP study “Multi-centre, randomised, open-label, blinded endpoint assessed, trial of corticosteroids plus intravenous immunoglobulin (IVIG) and aspirin, versus IVIG and aspirin for prevention of coronary artery aneurysms in Kawasaki disease.”

New biomarkers of diagnosis, severity and treatment response in Kawasaki disease: a prospective observational study

Anti-adalimumab antibodies detection using a novel peptide-based assay in a cohort of pediatric patients with chronic rheumatic disorders, in collaboration with PeptLab® and the Department of Biochemistry, University of Florence

Participation in the EUROMYOSITIS registry for the study of pediatric myositis

Participation in the International working group on pediatric Sjögren syndrome

• Funded projects

A Phase 3 Multicenter Study to Evaluate the Long-Term Safety and Efficacy of Baricitinib in Patients From 1 Year to <18 Years of Age With Juvenile Idiopathic Arthritis (JIA) – funded by Eli Lilly

Safety and Effectiveness of Adalimumab in Patients With Polyarticular Course of Juvenile Idiopathic Arthritis: STRIVE Registry – funded by AbbVie

Observational registry of patients with juvenile idiopathic arthritis treated with abatacept – funded by Bristol-Myers Squibb

Pharmacokinetics, Efficacy and Safety of Abatacept Administered Subcutaneously (SC) in Children and Adolescents With Active Polyarticular Juvenile Idiopathic Arthritis (pJIA) and Inadequate Response (IR) to Biologic or Non-Biologic Disease-Modifying Anti-Rheumatic Drugs (DMARDs) – funded by Bristol-Myers Squibb

Prof. CARLO DANI

Description of research activities
Study of hemodynamics in preterm newborns

Pathophysiology of respiratory failure in preterm newborns

Hyperbilirubinemia in term and preterm newborns

Oxidative stress in the newborn

Funded projects

PRIN Project 2011–2012: “Preterm Birth: molecular, biochemical and biophysical markers of the feto-placental unit”

Project funded by Chiesi–Dräger–Fisher & Paykel: “SLI STUDY: respiratory support in the delivery room with sustained lung inflation in extremely preterm newborns at risk of RDS. Randomized controlled study.”

Prof. ANTONIO MESSINEO
Description of research activities
Pectus excavatum
Development of alternative imaging (Fast MRI)
Kinematic analysis of the chest by optoelectronic plethysmography
Double-blind randomized study (PaiNT) on enhanced epidural analgesia through anxiolysis
CAD-FEM analysis of different Nuss bar lengths
Development of a sensorized Nuss bar (SPEED) and development of a resorbable bar
Pectus carinatum
Development of a non-invasive correction method using a sensorized brace

Correction of minor chest wall defects using fat grafting

Basic research
Differentiation of amniotic-derived stem cells toward smooth muscle phenotype
Structural and biochemical analysis of cartilage in patients with pectus excavatum (BioScope)
Analysis of the effect of corticosteroid therapy on the preputial skin of children operated on for phimosis

Dr. ELEONORA GAMBINERI
Description of research activities
Phenotypic and molecular study of congenital immunoregulatory disorders (IPEX–IPEX-like). Molecular characterization of new phenotypes. Influence of external factors (e.g., microbiota) on the control of immune tolerance and hence on the phenotypic expression of these diseases.

Study of immune reconstitution and intestinal immune tolerance in acute intestinal GvHD in oncologic diseases and primary immunodeficiencies.

Funded projects

Annual university funds (ex 60%)
ESID Congress 2012 profit for research on Primary Immunodeficiencies
2013–2015: Jeffrey Modell Foundation Research Grant (“Role of gut immune system in controlling immune dysregulation: acute gut GvHD and IPEX/IPEX-like syndromes as models”)

Dr. AMELIA MORRONE
Description of research activities
Biochemical and molecular-genetic studies of Inherited Metabolic Diseases with particular interest in lysosomal storage diseases, focusing on the relevance of deep intronic mutations, functional studies, and innovative therapeutic approaches for endogenous correction of mutated RNA via exon skipping methods, and of misfolded proteins via chaperone pharmacotherapy.

Funded projects

Genzyme Corporation
2011–2012 “Lysosomal Storage Disorders: Genetics, biochemical, functional studies and analysis of expression levels of mutant alpha-galactosidase mRNAs and proteins”
Shire Human Genetic Therapies, Inc.
2013, as an extension of the project
“Enhancement of enzyme activity in sphingolipidosis diseases caused by conformational defects”
POR CRO FSE 2007–2013 – joint advanced training projects
Funding 2012–2014 “Inherited Metabolic Diseases: biochemical and functional genetic characterization of new mutations, assessment of pathogenicity and potential responsiveness to personalized medicine approaches”
2013–2014 Associazione Malattie Metaboliche Congenite Ereditarie (AMMeC)
Project: Genetic and Biochemical–Functional Studies Applied to Inborn Errors of Metabolism

Dr. FRANCESCA LA CAUZA
Researcher – currently assigned to the Emergency Department for clinical duties.
Description of research activities
Auxo-endocrinology in developmental age and sports (various collaborative projects with the Sports Medicine Unit – Prof. G. Galanti)
Funded projects
Osgood–Schlatter disease: possible role of leptin and adiponectin in its pathogenesis (University research project – ex 60%)

Dr. PAOLA ALLORI
Description of research activities
Cerebral palsy, movement disorders, pharmacotherapy of extrapyramidal disorders and tools to evaluate pharmacotherapeutic effectiveness, neuromotor rehabilitation
Funded projects
University scientific research project (ex 60%): “Clinical indicators for choosing pharmacological treatment for non-progressive extrapyramidal disorders in developmental age”

DON Project 26/09: “Rare neurological diseases in developmental age, with particular attention to dystonic forms: in-depth analysis of new-generation diagnostic and therapeutic/rehabilitation procedures; development of evaluation protocols. Establishment of a collaborative research network with Italian and foreign institutions highly specialized in rare neurological diseases.”
Dr. MARIA CRISTINA STEFANINI
Description of research activities
Main clinical research focuses on the clinic and intervention methods for adolescent psychiatric decompensation and on the clinic and psychopathology of Eating Disorders in developmental age, with particular reference to early onset and forms in early and middle childhood.
In recent years, pilot projects have been implemented on the application of integrative medicine treatments in these disorders (Traditional Chinese Medicine, Qi Gong, Animal-Assisted Therapy).

Funded projects
– Regional research project (Tuscany Region Decree No. 6855/2009): Methodological in-depth study of complementary medicine techniques and protocols in severe eating disorders in developmental age, inpatients at the Child Neuropsychiatry Unit, AOU Careggi Florence. Continuation of the 2008 pilot experience. Concluded March 2013
– Two-year research by the Ministry of Public Education (ex 60%): Assessment of past attachment styles and current parental functioning in adolescents hospitalized at the Child Neuropsychiatry Unit with restrictive Eating Disorder. Years 2011–13
– Pilot project for preliminary evaluation of outcomes obtained with Animal-Assisted Therapy (AAT) versus standard therapy alone in developmental-age inpatients with psychiatric decompensation at the Child Neuropsychiatry Unit, AOU Careggi (leads: Prof. M. G. Martinetti, Dr. M. C. Stefanini). Project funded through Master’s program funds on Eating Disorders; approved by AOUC Ethics Committee December 2012; started in 2013.