Letizia Sabatini

University of Rome Tor Vergata

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Giuseppe Palumbo

University of Rome Tor Vergata

Silvio Marchesani

Bambino Gesù Children's Hospital

Margherita Di Mauro

Bambino Gesù Children's Hospital

Giulia Ceglie

Bambino Gesù Children's Hospital

Gioacchino Andrea Rotulo

University of Genoa

Claudio Cherchi

Bambino Gesù Children's Hospital

Maria Giovanna Paglietti

Istituti di Ricovero e Cura a Carattere Scientifico

Paolo Palma

Bambino Gesù Children's Hospital

Sergio Ghirardo

University of Trieste

Alessandro Onofri

Bambino Gesù Children's Hospital

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Bambino Gesù Children's Hospital

Istituti di Ricovero e Cura a Carattere Scientifico

University of Rome Tor Vergata

Sapienza University of Rome

Istituto Superiore di Sanità

Università Cattolica del Sacro Cuore

Agostino Gemelli University Polyclinic

Boston Children's Hospital

Institute for Neurodegenerative Disorders

Evelina London Children's Healthcare

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Immunological profile in a pediatric population of patients with spherocytosis. A single-center experience

Blood Cells Molecules and Diseases (2022)

Silvio Marchesani Letizia Sabatini Valentina Bertaina Olivia Marini M Ambrosi

Hereditary spherocytosis

Spherocytosis

Thrombocytosis

Leukocytosis

10.1016/j.bcmd.2022.102700

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Subacute Sclerosing Panencephalitis in Children: The Archetype of Non-Vaccination

Viruses (2022)

Laura Papetti Maria Elisa Amodeo Letizia Sabatini Melissa Baggieri Alessandro Capuano

Subacute sclerosing panencephalitis (SSPE) is a late complication of measles virus infection that occurs in previously healthy children. This disease has no specific cure and is associated with a high degree of disability and mortality. In recent years, there has been an increase in its incidence in relation to a reduction in vaccination adherence, accentuated by the COVID-19 pandemic. In this article, we take stock of the current evidence on SSPE and report our personal clinical experience. We emphasise that, to date, the only effective protection strategy against this disease is vaccination against the measles virus.

Subacute sclerosing panencephalitis

Pandemic

10.3390/v14040733

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Inflammatory status in pediatric sickle cell disease: Unravelling the role of immune cell subsets

Frontiers in Molecular Biosciences (2023)

Silvio Marchesani Valentina Bertaina Olivia Marini Matilde Cossutta Margherita Di Mauro

Introduction: The mutation of the beta-globin gene that causes sickle cell disease (SCD) results in pleiotropic effects, such as hemolysis and vaso-occlusive crisis that can induce inflammatory mechanisms with deleterious consequences on the organism. Moreover, SCD patients display an increased susceptibility to infections. Few studies are currently available that evaluate a wide immunological profile in a pediatric population. This study proposes an evaluation of the immune profile in subjects with SCD in a pediatric population through a detailed analysis by flow cytometry. Methods and Materials: Peripheral blood samples from 53 pediatric patients with SCD (mean age 9.8 years, interquartile range 9 years) were obtained and then analyzed by flow cytometry, in order to evaluate changes in the immune populations compared to 40 healthy donors (mean age 7.3 years, interquartile range 9.5 years). Results: Our data showed an increase in neutrophils (with a reduction in the CD62L + subpopulation) and monocytes (with a decrease in HLA-DRlow monocytes) with normal values of lymphocytes in SCD patients. In the lymphocyte subpopulations analysis we observed lower values of CD4+ T cells (with higher number of memory and central memory T lymphocytes) with increased frequency of CD8+ T cells (with a predominant naive pattern). Moreover, we observed higher values of CD39+ Tregs and lower HLA-DR+ and CD39- T cells with an increased Th17, Th1-17 and Th2 response. Conclusion: We observed immunological alterations typical of an inflammatory status (increase in activated neutrophils and monocytes) associated with a peculiar Treg pattern (probably linked to a body attempt to minimize inflammation intrinsic to SCD). Furthermore, we highlighted a T helper pathway associated with inflammation in line with other studies. Our data showed that immunological markers may have an important role in the understanding the pathophysiology of SCD and in optimizing targeted therapeutic strategies for each patient.

Interquartile range

10.3389/fmolb.2022.1075686

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Echocardiographic Evaluation in Paediatric Sickle Cell Disease Patients: A Pilot Study

Journal of Clinical Medicine (2022)

Letizia Sabatini Marcello Chinali Alessio Franceschini Margherita Di Mauro Silvio Marchesani

Cardiovascular involvement has a great impact on morbidity and mortality in sickle cell disease (SCD). Currently, few studies are available regarding the paediatric setting and, moreover, current guidelines for the echocardiogram screening program in the asymptomatic paediatric population are controversial. We performed a retrospective observational monocentric study on 64 SCD patients (37 male and 27 female, median age 10) at the Bambino Gesù Childrens’ Hospital, who had undergone a routine transthoracic echocardiogram. In total, 46 (72%) patients had at least one cardiac abnormality. Left atrial dilatation (LAD) was present in 41 (65%) patients and left ventricular hypertrophy (LVH) was found in 29 (45%) patients. Patients with LAD showed lower median haemoglobin levels (p = 0.009), and a higher absolute reticulocyte count (p = 0.04). LVH was negatively correlated with the median haemoglobin value (p = 0.006) and positively with the reticulocyte count (p = 0.03). Moreover, we found that patients with cardiac anomalies had higher transfusion needs and a lower frequency of pain crises. In our setting, cardiac involvement has a high prevalence in the paediatric cohort and seems to be associated with specific laboratory findings, and with a specific clinical phenotype characterized by complications related to high haemodynamic load.

10.3390/jcm12010007

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Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome

The Italian Journal of Pediatrics/Italian journal of pediatrics (2022)

Sergio Ghirardo Letizia Sabatini Alessandro Onofri Maria Beatrice Chiarini Testa Maria Giovanna Paglietti

Abstract Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case presentation We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. Conclusions Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.

Rett Syndrome

Pulse Oximetry

10.1186/s13052-022-01359-7

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Hypoventilation in a case of congenital Rett syndrome

Authorea (Authorea) (2024)

Sergio Ghirardo Letizia Sabatini Alessandro Onofri Maria Beatrice Chiarini Testa Maria Giovanna Paglietti

Breathing disturbances are often a major clinical concern during wakefulness of classic form of Rett syndrome, but data for atypical forms are lacking. We report the case of a 20-month-old female affected by the congenital variant of Rett syndrome, that is characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing and sustained desaturation during sleep time, without obstructive nor central events; pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of Rett syndrome presenting hypoventilation. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. Thus, we suggest screening patients with congenital Rett variant through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, in our case, assisted control mode was a breakthrough to achieve adequate ventilation.

Rett Syndrome

10.22541/au.170666142.28923765/v1

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Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

Brain Sciences (2022)

Francesco Nicita Letizia Sabatini Viola Alesi Giulia Lucignani Ester Sallicandro

Recessive hereditary methemoglobinemia (RHM) due to NADH-cytochrome b5 reductase deficiency is a rare disease caused by pathogenic variants in CYB5R3. Unlike type I, in RHM type II (RHM2), the enzymatic defect affects erythrocytes and all body tissues, thus resulting in cyanosis and neurological impairment. Although the first description of RHM2 dates back to the mid-1950s, detailed clinical and neuroimaging information are available for only a few patients. Here, we describe a new patient with RHM2 that harbors an unreported homozygous 31 Kb deletion involving part of CYB5R3, and showing a peculiar neuroimaging pattern resembling a ponto-cerebellar hypoplasia-like condition. A careful review of the available literature was performed with the aim of better delineating neurological and neuroimaging as well as the genotypic spectra of this extremely rare disease.

Cerebellar hypoplasia (non-human)

10.3390/brainsci12020182

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Citations (6)