Publications by authors named "Niccolò Carli"

8 Publications

  • Page 1 of 1

A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors.

Eur J Paediatr Neurol 2021 Nov 6;36:1-6. Epub 2021 Nov 6.

Pediatric Rheumatology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.

Objectives: Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutical and prognostic features of SC.

Study Design: We retrospectively analyzed the medical records of patients <18-years old with SC in 17 Italian pediatric centers. Recorded data included clinical, instrumental and laboratory parameters. Prognostic risk factors including treatment regimens were assessed with univariate and multivariate sub-analysis.

Results: We included 171 patients with SC. 66% had generalized chorea, and 34% hemichorea. 81% had carditis (subclinical in 65%). Additional neurological symptoms were reported in 60% of the patients, mainly dysarthria and dysgraphia. 51% had neuropsychiatric symptoms at onset, which persisted after 12 months in 10%. Among psychiatric manifestations, the most common was anxiety disorder/depression (77%). Neurological remission was reached by 93% of the patients at 6 months; 9% relapsed. Patients were treated as follows: 11% penicillin alone, 37% immunomodulatory therapy, 16% symptomatic drugs (i.e. anti-seizure medication, dopamine antagonists) and 37% both symptomatic and immunomodulatory treatment. Neurological outcome did not differ between groups. Patients receiving symptomatic drugs had a higher risk of relapse on multivariate analysis (p = 0.045).

Conclusions: Treatment of SC was largely heterogeneous. Based on our results, immunomodulatory therapy did not show higher efficacy at medium term, although it was associated to a slightly lower risk of relapse compared to symptomatic therapy. Longitudinal studies are needed to assess specific risk factors and best treatment options.
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November 2021

PTSD in parents of children with severe diseases: a systematic review to face Covid-19 impact.

Ital J Pediatr 2021 Jan 14;47(1). Epub 2021 Jan 14.

Department of Clinical and Experimental Medicine, Psychiatric Clinic, Azienda Ospedaliero-Universitaria Pisana, University of Pisa, Pisa, Italy.

Context: The literature agrees on the impact of post-traumatic stress symptoms in parents of seriously ill children but there is less clarity about the real extent and gender differences of this psychopathological risk. The recent Covid-19 outbreak highlighted new burdens for researchers on Post Traumatic Stress Disorder (PTSD) and clear evidence-based knowledge on this issue is timely needed.

Objective: In this review, we present a synthesis of the updated evidence on PTSD rates in parents of children with severe diseases. We also aim to try to understand if research in this field has been refined over time with the long-term intent to better face the new challenges of Covid-19 in the paediatric field.

Data Sources: The PubMed database was searched.

Study Selection: Studies were included if they assessed PTSD in parents of children diagnosed with physical illnesses.

Data Extraction: Of 240 studies, 4 were included.

Results: Analysis of the 4 studies revealed 2 studies with PTSD rates around 20% and in line with previous best-evidence. All 4 studies tried to provide more data on fathers, however, all the studies present the lack of a control group.

Limitations: The limited number of studies, which also differ widely in the methodology used.

Conclusions: Methodological errors evidenced in all the 4 studies limit their reliability, making the understanding of the paediatric caregiver's concern regarding PTSD still difficult. More sound research is needed.
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January 2021

A pathway to precision therapy even for mitochondrial myoclonic epilepsy.

Seizure 2020 05 15;78:170-171. Epub 2019 Nov 15.

Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy. Electronic address:

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May 2020

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Seizure 2019 Oct 23;71:247-257. Epub 2019 Aug 23.

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Neurophysiologic recordings are suited to describe faithfully the time course of the shock-like muscle contractions which characterize myoclonus. A combination of positive and negative myoclonus is typical of PMEs. The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. PMEs are uncommon disorders, difficult to diagnose in the absence of extensive experience. Thus, aetiology is undetermined in many patients, despite the advance in molecular medicine. Treatment of PMEs remains essentially symptomaticof seizures and myoclonus, together with palliative, supportive, and rehabilitative measures. The response to therapy may initially be relatively favourable, afterwards however, seizures may become more frequent, and progressive neurologic decline occurs. The prognosis of a PME depends on the specific disease. The history of PMEs revealed that the international collaboration and sharing experience is the right way to proceed. This emerging picture and biological insights will allow us to find ways to provide the patients with meaningful treatment.
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October 2019

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.
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September 2020

Growth and body mass index in a cohort of patients with juvenile idiopathic arthritis: effects of second line treatments.

Clin Exp Rheumatol 2018 Sep-Oct;36(5):929-933. Epub 2018 Jul 19.

Rheumatology Unit, Meyer Children's Hospital, University of Florence, Italy.

Objectives: Juvenile idiopathic arthritis (JIA) may affect natural growth. The aim of the study has been to assess auxological parameters of JIA patients, receiving different anti-rheumatic treatments.

Methods: This is a retrospective study; JIA patients were recruited from the Rheumatology Unit of Anna Meyer Children's University Hospital of Florence, Italy from March 1996 to June 2016.

Results: Two hundred and thirty-two patients were included in the current study. The best result in terms of catch-up growth occurred in systemic JIA patients. All JIA categories showed standard deviation score (SDS) gain for height except those belonging to enthesitis related arthritis category. Patients treated with disease-modifying anti-rheumatic drugs (DMARDs) only maintained constant growth during study follow-up. Patients who needed biologic therapy showed an impaired growth during pre-DMARDs treatment and an increased growth velocity mostly during biologic therapy. Body mass index (BMI) decreased in almost all JIA categories. The best BMI reduction was observed among patient receiving biologic drugs.

Conclusions: Patients with JIA followed in our centre had a gain of height SDS and lost BMI SDS in 5 years of follow-up. We observed a stable and good pattern of growth in patients treated with DMARDs and an increased growth velocity during biologic treatment.
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January 2019

Quantitative structure-activity relationship models for predicting biological properties, developed by combining structure- and ligand-based approaches: an application to the human ether-a-go-go-related gene potassium channel inhibition.

Chem Biol Drug Des 2009 Oct;74(4):416-33

Dipartimento di Scienze Farmaceutiche, Università di Pisa, 56126 Pisa, Italy.

A strategy for developing accurate quantitative structure-activity relationship models enabling predictions of biological properties, when suitable knowledge concerning both ligands and biological target is available, was tested on a data set where molecules are characterized by high structural diversity. Such a strategy was applied to human ether-a-go-go-related gene K(+) channel inhibition and consists of a combination of ligand- and structure-based approaches, which can be carried out whenever the three-dimensional structure of the target macromolecule is known or may be modeled with good accuracy. Molecular conformations of ligands were obtained by means of molecular docking, performed in a previously built theoretical model of the channel pore, so that descriptors depending upon the three-dimensional molecular structure were properly computed. A modification of the directed sphere-exclusion algorithm was developed and exploited to properly splitting the whole dataset into Training/Test set pairs. Molecular descriptors, computed by means of the codessa program, were used for the search of reliable quantitative structure-activity relationship models that were subsequently identified through a rigorous validation analysis. Finally, pIC(50) values of a prediction set, external to the initial dataset, were predicted and the results confirmed the high predictive power of the model within a quite wide chemical space.
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October 2009

Development of QSAR models for predicting hepatocarcinogenic toxicity of chemicals.

Eur J Med Chem 2009 Sep 20;44(9):3658-64. Epub 2009 Feb 20.

Istituto Nazionale per la Scienza e Tecnologia dei Materiali, Via Giusti 9, 50121 Firenze, Italy.

A dataset comprising 55 chemicals with hepatocarcinogenic potency indices was collected from the Carcinogenic Potency Database with the aim of developing QSAR models enabling prediction of the above unwanted property for New Chemical Entities. The dataset was rationally split into training and test sets by means of a sphere-exclusion type algorithm. Among the many algorithms explored to search regression models, only a Support Vector Machine (SVM) method led to a QSAR model, which was proved to pass rigorous validation criteria, in accordance with the OECD guidelines. The proposed model is capable to explain the hepatocarcinogenic toxicity and could be exploited for predicting this property for chemicals at the early stage of their development, so optimizing resources and reducing animal testing.
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September 2009