Publications by authors named "Antonio Ruggiero"

. Childhood brain tumor survivors (CCSs) are at high risk of developing metabolic syndrome (MetS) and sarcopenia. To date, a tool able to predict any body composition changes or detect them early and increased adiposity (and, therefore, increased likelihood of MetS onset) is still lacking in this population.

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  • Appendiceal neuroendocrine neoplasms (ANENs) are rare tumors usually discovered after appendectomy for appendicitis, and there's currently no standardized treatment for them in children.
  • A study analyzed 17 pediatric patients with ANENs, revealing that most tumors were small and well-differentiated with no need for additional surgery; follow-up lasting up to 10 years showed no recurrences.
  • The findings suggest that ANENs have favorable outcomes, highlighting the need for more comprehensive data to establish treatment guidelines for these tumors in children.
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G6PD deficiency results from mutations in the X-linked G6PD gene. More than 200 variants are associated with enzyme deficiency: each one of them may either cause predisposition to haemolytic anaemia triggered by exogenous agents (class B variants), or may cause a chronic haemolytic disorder (class A variants). Genotype-phenotype correlations are subtle.

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Background: The Multidisciplinary Tumor Board (MTB) is a collaborative platform involving specialists in oncology, surgery, radiology, pathology, and radiotherapy, and aims to optimize diagnostics and treatments. Despite MTB's widespread benefits, limited literature addresses its application in pediatric neuro-oncology. After a literature revision on pediatric neuro-oncology MTB, our study describes our institute's pediatric neuro-oncology MTB, focuses on evaluating its impact and the neuroradiologist's role in patient-centric approaches, considering recent genetic insights into pediatric brain tumors.

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Over the last several years, a growing body of evidence from anatomical, physiological, and functional neuroimaging studies has increasingly indicated that the cerebellum is actively involved in managing higher order cognitive functions and regulating emotional responses. It has become clear that when children experience congenital or acquired cerebellar lesions, these injuries can lead to a variety of cognitive and emotional disorders, manifesting in different combinations. This underscores the cerebellum's essential role not only throughout developmental stages but particularly in facilitating learning processes, highlighting its critical importance beyond its traditional association with motor control.

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Background: Covid-19 has dramatically increased the number of admissions in intensive care units due to respiratory complications. In some cases, the arousal of neurological impairments, such as peripheral neuropathies, have been revealed. The purpose of this research was to characterize the gait pattern and muscle activity changes in Covid-19 survivors compared to physiological gait.

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  • Photopic negative response (PhNR) is a measure of retinal ganglion cell (RGC) function and was found to be impaired in pediatric patients with optic pathway gliomas (OPGs).
  • A study followed 14 OPG patients for about 16.7 months, revealing that their PhNR amplitude significantly decreased over time, particularly in those with neurofibromatosis type 1 (NF1).
  • Despite stable tumor sizes on MRI, the decline in PhNR amplitude indicates progressive RGC dysfunction in NF1-related OPGs, suggesting that PhNR could be a useful non-invasive method for monitoring these changes in future clinical evaluations.
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  • Infantile fibrosarcoma (IFS) is the most common soft tissue sarcoma in infants under 1 year, characterized by rapid growth and a complicated tumor microenvironment, presenting challenges in treatment without specific diagnostic markers.
  • The study utilized single-cell RNA sequencing on fresh IFS samples from four patients to analyze the tumor's cellular makeup, revealing 14 distinct cell populations and identifying novel potential markers for diagnosis and therapy.
  • Findings highlighted the presence of cancer stem cell subtypes and significant communication between endothelial cells and macrophages in the tumor microenvironment, which may promote tumor growth and offer new avenues for therapeutic intervention.
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Background: According to scientific literature, burnout can be described as a multidimensional syndrome with three fundamental dimensions: emotional exhaustion, depersonalization and reduced personal accomplishment. Every day, clown-doctors, play therapists, teachers and volunteers, such as ceramic art therapists, work in pediatric cancer wards to improve the quality of life of hospitalized children and activate positive resources during their therapeutic journey.

Methods: This study investigated burnout levels and the relationship between work-related stress and resilience in a total of 36 operators (clown-doctors, in-hospital teachers, play therapists, and ceramic art therapists), working at the Unit of Pediatric Oncology of IRCCS A.

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Background: Family members dealing with the devastating impact of a cancer diagnosis are now facing even greater vulnerability due to the COVID-19 pandemic. Alongside the already overwhelming trauma, they must also bear the distressing burden of the infection risks. The purpose of this study was to examine and explore the effects in parents of pediatric cancer patients two years after the start of the COVID-19 pandemic to compare these data with the previous data.

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  • Recent advancements in brain tumor treatments have improved survival rates for children but have led to long-term health issues related to chronic inflammation and metabolic changes.
  • This study compares 14 male survivors of childhood brain tumors with 14 healthy controls, measuring biomarkers of metabolic syndrome and cardiopulmonary exercise test (CPET) results.
  • Findings indicate that brain tumor survivors performed worse in CPET and had higher levels of endothelin-1, suggesting increased cardiovascular risk possibly linked to their treatment.
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Purpose: To assess the prevalence of alterations in anthropometric parameters predictive of metabolic syndrome and cardiovascular risk among childhood brain tumor survivors.

Methods: Anthropometric parameters predictive of metabolic syndrome and cardiovascular risk were analyzed [height, weight, BMI, waist circumference, hip circumference, waist-height ratio (WHtR), waist-hip ratio (WHR, blood pressure] of 25 patients who survived childhood brain tumors.

Results: 21 patients (84%) showed alteration of at least one predictive anthropometric parameter.

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Background: During the last decade, there has been a growing number of cases of children born from pregnancy-associated cancer (PAC), however there are currently insufficient data on the follow up to be observed in this category of newborns. Objective of the study was to evaluate the neonatal outcomes of infants born to mother with PAC, the potential adverse effect of chemotherapy during pregnancy and the risk of metastasis to the fetus.

Methods: Maternal clinical data and neonatal outcomes of child born to mothers diagnosed with PAC were collected; infants were divided into those were and were not exposed to chemotherapy during fetal life and their outcomes were compered.

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  • - A 73-year-old man was hospitalized due to epigastric pain and fainting, showing elevated troponin levels and a unique ST-elevation on an electrocardiogram.
  • - Coronary angiography revealed multi-vessel coronary artery disease, leading to a series of interventions including angioplasty and stenting on multiple arteries.
  • - This case illustrates that in some acute coronary syndrome instances, rare ST elevation anomalies can indicate the presence of significant multi-vessel disease.
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Aminoglycosides are broad-spectrum antibiotics largely used in children, but they have potential toxic side effects, including ototoxicity. Ototoxicity from aminoglycosides is permanent and is a consequence of its action on the inner ear cells via multiple mechanisms. Both uncontrollable risk factors and controllable risk factors are involved in the pathogenesis of aminoglycoside-related ototoxicity and, because of the irreversibility of ototoxicity, an important undertaking for preventing ototoxicity includes antibiotic stewardship to limit the use of aminoglycosides.

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Background: Severe traumatic brain injury (TBI) is one of the most dramatic events in pediatric age and, despite advanced neuro-intensive care, the survival rate of these patients remains low. Children suffering from severe TBI show long-term sequelae, more pronounced in behavioral, neurological and neuropsychological functions leading to, in the most severe cases, an unresponsive wakefulness syndrome (UWS). Currently, no effective treatments can restore neuronal loss or produce significant improvement in these patients.

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Pediatric optic pathway gliomas (OPG) are low-grade brain tumors characterized by slow progression and invalidating visual loss. Common therapeutic strategies include surgery, radiotherapy, chemotherapy, and combinations of these modalities, but despite the different treatment strategies, no actual treatment exists to prevent or revert visual impairment. Nowadays, several reports of the literature show promising results regarding NGF eye drop instillation and improvement of visual outcome.

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The growing phenomenon of antibiotic resistance and the presence of limited data concerning the pediatric area prompted us to focus on infection in this study, its antibiotic resistance profile, and the therapeutic management of affected children. We conducted a retrospective study by collecting clinical data on infants and children with antibiogram-associated infection. We enrolled 1210 patients with a mean age of 0.

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Prognosis of high-risk neuroblastoma is dismal, despite intensive induction chemotherapy, surgery, high-dose chemotherapy, radiotherapy, and maintenance. Patients who do not achieve a complete metastatic response, with clearance of bone marrow and skeletal NB infiltration, after induction have a significantly lowersurvival rate. Thus, it's necessary to further intensifytreatment during this phase.

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Objective: To investigate the feasibility of diffusion-weighted magnetic resonance imaging (DW-MRI) as a predictive imaging marker after neoadjuvant chemotherapy in patients with rhabdomyosarcoma.

Material And Methods: We performed a multicenter retrospective study including pediatric, adolescent and young adult patients with rhabdomyosarcoma, Intergroup Rhabdomyosarcoma Study group III/IV, treated according to the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 or MTS2008 studies. DW-MRI was performed according to institutional protocols.

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  • - This multicenter retrospective study investigated the effects of eltrombopag treatment in Italian children with chronic ITP, analyzing data from 56 patients across 17 centers.
  • - Patients were divided into three groups based on their treatment outcomes: those who stopped due to stable platelet counts, those who stopped due to ineffectiveness, and those who continued treatment.
  • - Results showed that 36% of patients stopped eltrombopag permanently, mainly due to inefficacy, but those who had stable platelet counts maintained improvement without further treatment, highlighting the significance of early treatment response.
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Background: Health-related quality of life (HRQOL) measurement has become an important health care outcome even in oncological pediatric scenario. During radiation therapy care path, pediatric patients and their relatives may suffer from emotional and psychosocial distress not only related to cancer diagnosis, but also due to the procedure and the required daily routine. Despite the high prevalence of psychosocial consequences in this setting, instruments that inquire pediatric HRQOL and healthcare satisfaction have rarely been studied in Italy.

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Background: Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.

Materials And Methods: DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al.

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