Publications by authors named "Chiapparini L"

: Insular gliomas are rare entities whose surgical resection presents a significant challenge due to their close relationship with crucial white matter bundles and deep perforating arteries. The Berger-Sanai classification is a well-established system based on dividing the insula into four quadrants. In contrast, the Kawaguchi grading system focuses on the tumor's behavior and vascular infiltration.

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  • This study investigates how case-level American College of Medical Genetics (ACMG) criteria can clarify the pathogenicity of ultrarare variants causing Anderson-Fabry disease, especially when standard gene and variant-level analyses are inconclusive.
  • A 52-year-old woman presented symptoms like shortness of breath and chest pain, and family screening revealed affected and unaffected siblings, with some presenting with related symptoms indicating possible genetic connections to the disease.
  • Endomyocardial biopsies and advanced genetic testing initially classified a specific variant as uncertain, but incorporating functional data from biopsies and familial segregation eventually led to its reclassification as Likely Pathogenic/Pathogenic.
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  • - The study focused on treating high-risk M+ medulloblastoma patients through a specific chemotherapy and radiation protocol, including multiple high-dose drugs and tailored dosages based on age and response to treatment.
  • - Out of 89 enrolled patients, the median age was 8.8 years, and the study reported 5-year overall survival at 75.9% and 15-year event-free survival at 66.5%, with some negative outcomes linked to disease progression during treatment.
  • - Subgroup analysis indicated that patients with Sonic Hedgehog (SHH) tumors and those with certain genetic mutations had significantly worse event-free survival rates compared to other subgroups in the study.
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Despite the spread of novel-generation cochlear-implant (CI) magnetic systems, access to magnetic resonance imaging (MRI) for CI recipients is still limited due to safety concerns. The aim of this study is to assess and record the experiences of Hires Ultra 3D (Advanced Bionics) recipients who underwent an MRI examination. A multicentric European survey about this topic was conducted focusing on safety issues, and the results were compared with the current literature.

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In patients with Chiari 1.5 malformation (CM1.5), a more aggressive disease course and an increased association with craniovertebral junction (CVJ) anomalies has been suggested.

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TLR7 recognizes pathogen-derived single-stranded RNA (ssRNA), a function integral to the innate immune response to viral infection. Notably, TLR7 can also recognize self-derived ssRNA, with gain-of-function mutations in human TLR7 recently identified to cause both early-onset systemic lupus erythematosus (SLE) and neuromyelitis optica. Here, we describe two novel mutations in TLR7, F507S and L528I.

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Background: Despite hypothalamus has long being considered to be involved in the pathophysiology of cluster headache, the inconsistencies of previous neuroimaging studies and a limited understanding of the hypothalamic areas involved, impede a comprehensive interpretation of its involvement in this condition.

Methods: We used an automated algorithm to extract hypothalamic subunit volumes from 105 cluster headache patients (57 chronic and 48 episodic) and 59 healthy individuals; after correcting the measures for the respective intracranial volumes, we performed the relevant comparisons employing logist regression models. Only for subunits that emerged as abnormal, we calculated their correlation with the years of illness and the number of headache attacks per day, and the effects of lithium treatment.

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The diagnosis of Chiari malformation type 1 (CM1) and Syringomyelia (Syr) has become increasingly common during the past few years. Contemporarily, the body of literature on these topics is growing, although randomized controlled studies on significant case series to drive guidelines are missing in the pediatric and adult populations. As a result of the different opinions about surgical indications and techniques raised by CM1-Syr, an increasing number of well-informed but disoriented patients is emerging.

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  • * A study was conducted to investigate the production of melatonin (ME) in very preterm infants, the metabolism of ME after oral treatment, and the impact on MDA concentrations over 15 days.
  • * Results showed that while preterm infants couldn't produce measurable levels of ME initially, those who received ME treatment had significant increases in ME and its metabolite 6-OH-ME, but MDA levels remained relatively stable with a slight trend towards improvement in the ME group.
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Background: Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features.

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Objective: To assess artifact size and MRI visibility when applying the "Orthopedic-Metal Artifact Reduction" (O-MAR) algorithm for cochlear implant (CI) scanning.

Methods: Two volunteers were submitted to 1.5 T MRI with an Ultra 3D CI receiver stimulator placed on their head.

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Background: First-line therapies for medulloblastoma(MBL) are obtaining higher survival-rates while decreasing late-effects, but treatment at relapse is not standardized. We report here the experience with MBL re-irradiation(re-RT), its timing and outcome in different clinical settings and tumor groups.

Methods: Patient's staging/treatment at diagnosis, histotypes/molecular subgroups, relapse site/s, re-treatments outcome are reported.

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Purpose: MRI has an important role in diagnosing pilocytic astrocytoma and post-surgical follow-up since the surgical approach has a leading role in its treatment. The purpose of our study is to provide an overview of the typical and atypical MRI findings in a series of pediatric patients with isolated-not NF1-related-pilocytic astrocytomas and to correlate specific MRI patterns with clinical variables.

Methods: This is a cross-sectional retrospective study providing the analysis of several clinical and neuroradiological findings from a cohort of pediatric pilocytic astrocytoma, starting from the data collected in the Fondazione IRCCS Istituto Neurologico Carlo Besta (FINCB) internal Cancer Registry during an 11-year time period (January 2008-January 2019).

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Multiple hemorrhagic brain lesions are mainly diagnosed based on clinico-radiological features integrated with histological data. Intravascular papillary endothelial hyperplasia (IPEH), or Masson's tumor, is a very rare entity, particularly when localized in the brain. In this study, we describe a case of multiple recurrent brain IPEHs and provide details on the diagnostic phase, therapeutic approaches, and related challenges.

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Background And Objectives: Heterozygous mutations or deletions of the gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia; the latter is quite common despite in most patients brain MRI is reported to be normal. Despite the predominant neurologic involvement of -related syndrome, a systematic definition of neurologic, cognitive/behavioral, and neuroradiologic features is lacking.

Methods: We report on 6 patients (2 females and 4 males, age range 2-12 years), of whom 4 carrying a heterozygous point mutation of the gene and 2 with 10q26 deletion encompassing the gene, diagnosed at Carlo Besta Neurologic Institute of Milan, Italy.

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Background And Aims: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.

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A 49-year-old man presented with right foot drop, bilateral cruralgia mainly on the left side, and genital and perianal hypoesthesia, which started suddenly 12 days before. After onset of symptoms, the patient also experienced an accidental fall at home, resulting in a left fibular fracture, which was treated with reduction and with seven-hole plate Synthes Locking Compression Plate at the orthopedic clinic. The neurologic examination showed paresthesias on the posterior aspect of both thighs and crural regions that was worse on the left side, hypoesthesia in the L5 root region on the right side, and right foot drop.

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  • Meningiomas are rare in children and often linked to genetic syndromes that increase tumor risk.
  • Recent findings indicate that -fusions may act as independent drivers for meningioma development in pediatric patients.
  • The study presents a case of an atypical meningioma with a -fusion in a young child, advocating for a comprehensive diagnostic strategy that includes histology, molecular data, imaging, and clinical assessment.
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A 49-year-old man presented with right foot drop, bilateral cruralgia mainly on the left side, and genital and perianal hypoesthesia, which started suddenly 12 days before. After onset of symptoms, the patient also experienced an accidental fall at home, resulting in a left fibular fracture, which was treated with reduction and with seven-hole plate Synthes Locking Compression Plate at the orthopedic clinic. The neurologic examination showed paresthesias on the posterior aspect of both thighs and crural regions that was worse on the left side, hypoesthesia in the L5 root region on the right side, and right foot drop.

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Purpose: Fibrocartilaginous nucleus pulposus components herniation and embolism rarely causes acute ischaemic events involving the spinal cord. Few reports have suggested this as a mechanism leading to anterior spinal artery syndrome. The purpose of this study was to evaluate the topography and pattern of this rare myelopathy by MRI.

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Response criteria for paediatric intracranial ependymoma vary historically and across different international cooperative groups. The Response Assessment in the Pediatric Neuro-Oncology (RAPNO) working group, consisting of an international panel of paediatric and adult neuro-oncologists, neuro-radiologists, radiation oncologists, and neurosurgeons, was established to address both the issues and the unique challenges in assessing the response in children with CNS tumours. We established a subcommittee to develop response assessment criteria for paediatric ependymoma.

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Background: Converging evidence suggests that anatomical and functional mesocorticolimbic abnormalities support the chronicization of pain disorders.

Methods: We mapped structural and functional alterations of the mesocorticolimbic system in a sample of chronic cluster headache patients (n = 28) in comparison to age and sex-matched healthy individuals (n = 28) employing structural MRI and resting-state functional MRI.

Results: Univariate logistic regression models showed that several of the examined structures/areas (i.

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Background: Pilocytic astrocytoma (PA) rarely spreads along neuraxis, and association with superficial siderosis (SS) and chronic signs of intracranial hypertension is exceptional.

Case Report: A 48-year-old woman presented with slow onset hearing loss in the past year. Clinical examination revealed dysarthria, positive Romberg test, and severe optic neuropathy.

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