Publications by authors named "Buccoliero A"

Introduction: Cognitive symptoms are common in Parkinson's Disease (PD), and digital interventions like telerehabilitation other an accessible way to manage these symptoms. This study aimed to assess the effectiveness of a Home-Based Computerized Cognitive Training (HB-CCT) program in individuals with PD using a pilot randomized cross-over design.

Methods: Twenty-five participants (mean age 69.

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Skin cancer is among the most prevalent cancers globally, emphasizing the need for early detection and accurate diagnosis to improve outcomes. Traditional diagnostic methods, based on visual examination, are subjective, time-intensive, and require specialized expertise. Current artificial intelligence (AI) approaches for skin cancer detection face challenges such as computational inefficiency, lack of interpretability, and reliance on standalone CNN architectures.

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Aim Of The Study: Patients with congenital lung malformation (CLM) may present pulmonary inflammatory changes. However, little is known about the factors influencing local inflammation. The aim of this study was to evaluate the factors that may affect inflammatory changes in CLM.

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  • * In a study of pediatric and adult patients, a significant portion showed IgG antibodies localizing to kidney proteins, but the presence of these antibodies varied, indicating potential involvement of other proteins.
  • * Patients with anti-slit antibodies were more likely to develop nephrotic syndrome and showed a higher response rate to second-line immunosuppressants, while those without these antibodies had a greater risk of kidney failure.
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Very early onset inflammatory bowel disease (VEO-IBD) is a clinical term referring to IBD-like symptomatology arising in children younger than 6 years. VEO-IBD may be due to polygenic etiology in "pure" IBD (Crohn disease-CD and ulcerative colitis-UC), or it may be caused by primary immunodeficiency underlined by monogenic disease. Primary immunodeficiency monogenic diseases have a Mendelian inheritance and affect the immune system with multiorgan morbidity and possible effects on the gastrointestinal system.

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Background: Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here investigated the clinical phenotype, outcome, and prognostic factors of a large cohort of patients with mixed ECD-LCH.

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  • Dabrafenib plus trametinib shows strong effectiveness and manageable side effects for patients with -mutant glioma.
  • There is a notable case of a patient with recurrent anaplastic pleomorphic xanthoastrocytoma who had a complete and lasting response to this treatment.
  • Continued development of targeted therapies and treatment strategies is expected to enhance personalized care for high-grade glioma patients, ultimately improving their outcomes.
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  • The 2021 fifth edition of the WHO Classification of Tumors of the CNS introduced updated naming and grading systems, focusing on integrated diagnoses and detailed reports for better understanding of tumors.
  • This edition put a stronger emphasis on molecular diagnostics alongside traditional methods, introducing new tumor types based on advanced techniques like DNA methylome profiling.
  • The review highlights significant changes in classifying pediatric CNS tumors, detailing relevant molecular alterations that are crucial for diagnosis, prognosis, and treatment strategies important for both patients and oncologists.
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Background And Objective: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied.

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Background: Drug-resistant epilepsy is a common condition in patients with brain neoplasms. The pathogenesis of tumor-associated seizures is poorly understood. Among the possible pathogenetic mechanisms, the increase in glutamate concentration has been proposed.

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Meningiomas are tumours typically derived from the meningothelial cells of the arachnoid mater. They most often arise in intracranial, intraspinal, or orbital locations. Ectopic meningiomas, described as primary meningiomas with no intracranial involvement, are definitely unconventional.

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Aims: Very early-onset inflammatory bowel disease (VEO-IBD) is a clinical umbrella term referring to IBD-like symptoms arising in children before the age of 6 years, encompassing both 'pure' IBD, such as ulcerative colitis (UC) and Crohn's disease (CD) and monogenic diseases (MDs), the latter often involving genes associated with primary immunodeficiencies. Moreover, histological features in gastrointestinal (GI) biopsies in MD can also have IBD-like morphology, making differential diagnosis difficult. Correct diagnosis is fundamental, as MDs show a more severe clinical course and their inadequate/untimely recognition leads to inappropriate therapy.

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Low grade gliomas (LGGs) of pineal region are usually difficult to remove and they frequently relapse or progress after front line chemotherapy. Bevacizumab-Irinotecan (BEVIRI) combination has been successfully attempted in children with recurrent LGGs, in most cases not previously irradiated. The efficacy of bevacizumab has also been described in radiation necrosis.

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Children and young adult with high grade gliomas (HGG) have dismal prognoses and treatment options remain limited. We present 19 patients diagnosed with anaplastic astrocytoma (AA) or glioblastoma (GBM) treated with concomitant and adjuvant 20-30 mg/m/dose of vinorelbine and 30 mg/kg/day valproic acid (VA) in combination to consolidated TMZ and focal RT after maximal surgery. We evaluated the feasibility of treating children diagnosed with HGG.

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Erdheim-Chester disease (ECD) is a rare histiocytic disorder that can present as a localized infiltration of foamy histiocytes or a multisystem disease that may be life-threatening. It is extremely rare in children. Pegoraro and colleagues present the clinical and molecular features of 21 patients with pediatric ECD through a large international collaboration, documenting that it resembles its adult counterpart, with similar molecular features and responses to agents targeting BRAF and MEK.

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Bronchopulmonary sequestrations (BPSs) are rare congenital anomalies characterized by non-functioning embryonic lung tissue receiving anomalous blood supply. They are most commonly located within the thorax (supradiaphragmatic) or into the abdominal cavity (infradiaphragmatic). Intradiaphragmatic extralobar BPs (IDEPS) are an exceptionally rare finding, representing a diagnostic and operative challenge.

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We report the case of a 16-year-old girl presenting with spinal clear-cell multiple meningiomas (CCMs). In view of this presentation, we sequenced a bioinformatic panel of genes associated with susceptibility to meningioma, identifying a germline heterozygous variant in SMARCE1. Somatic DNA investigations in the CCM demonstrated the deletion of the wild-type allele (loss of heterozygosity, LOH), supporting the causative role of this variant.

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Identification of neoplastic and dysplastic brain tissues is of paramount importance for improving the outcomes of neurosurgical procedures. This study explores the combined application of fluorescence, Raman and diffuse reflectance spectroscopies for the detection and classification of brain tumor and cortical dysplasia with a label-free modality. Multivariate analysis was performed to evaluate classification accuracies of these techniques-employed both in individual and multimodal configuration-obtaining high sensitivity and specificity.

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Background: Myxoid glioneuronal tumor (MGT) is a benign glioneuronal neoplasm recently introduced in the World Health Organization (WHO) classification of the central nervous system (CNS) tumors. MGTs are typically located in the septum pellucidum, foramen of Monro or periventricular white matter of the lateral ventricle. They were previously diagnosed as dysembryoplastic neuroepithelial tumors (DNT), showing histological features almost indistinguishable from classical cortical DNT.

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Article Synopsis
  • * Sometimes, paediatric-type gliomas can appear in younger adults, and adult-type gliomas can occur in children, blurring the lines between these categories.
  • * The text reviews newly identified low-grade paediatric gliomas and suggests a comprehensive diagnostic method to differentiate these unique tumor types according to WHO guidelines.
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Pediatric brain tumors are the leading cause of cancer-related death in children in the United States and contribute a disproportionate number of potential years of life lost compared to adult cancers. Moreover, survivors frequently suffer long-term side effects, including secondary cancers. The Children's Brain Tumor Network (CBTN) is a multi-institutional international clinical research consortium created to advance therapeutic development through the collection and rapid distribution of biospecimens and data via open-science research platforms for real-time access and use by the global research community.

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Background:  Pleomorphic xanthoastrocytoma (PXA) is a rare low-grade brain tumor. To date, limited studies have analyzed factors affecting survival outcomes and defined the therapeutic strategy. The aim of this retrospective analysis was to investigate the clinicopathologic characteristics of PXA and identify factors associated with outcomes.

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Perineal lipoma is an uncommon congenital benign tumor sometimes associated with genitourinary or anorectal malformations. Accessory scrotum and accessory labioscrotal fold are infrequent features, often concurrent with perineal tumors. We describe a single institution experience with three consecutive cases of perineal lipoma associated with external genital anomalies, and a literature review.

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