Publications by authors named "Casali C"

Background: Cranial vault lesions are common in children, with dermoid and epidermoid cysts being the most frequent. Management is debated due to their slow growth, but early resection can prevent complications and provide a definitive histological diagnosis, which is sometimes linked to systemic diseases.

Methods: A retrospective study of children treated surgically for cranial vault tumors from January 2011 to April 2023 was conducted.

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As nanocarriers of a new generation, biomimetic nanovesicles are an emerging class of therapeutic tools whose surface is integrated or fabricated with biomaterials capable of mimicking the biological features and functions of native cells. Thanks to this, biomimetic nanovesicles, in particular, those made by plasma membrane moieties, possess greatly improved biocompatibility, high target specificity, a long retention time, and minimal undesired immune responses. For these reasons, a multitude of progenitor cells including cancer ones were employed as templates to generate biomimetic or membrane-camouflaged nanovesicles hosting different therapeutic compounds.

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  • FSHD is a myopathy linked to changes in DNA methylation at the D4Z4 locus, and this study evaluates the effectiveness of a methylation assay as a diagnostic tool.
  • The research involved 218 individuals suspected of having FSHD, comparing traditional molecular testing with the new methylation assay to assess accuracy and consistency.
  • The refined methylation assay showed high sensitivity (90%), specificity (100%), and accuracy (93%), indicating its potential for early detection, even in asymptomatic individuals with a family history of FSHD.
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  • - The study investigates how calcium (Ca) transfer between the endoplasmic reticulum (ER) and mitochondria, crucial for energy production, is affected by the distance between these organelles, particularly in the context of Parkinson's disease (PD).
  • - Researchers found that a specific distance of approximately 20 nm between ER and mitochondria enhances Ca transfer and supports optimal mitochondrial function, highlighting the importance of maintaining this distance.
  • - In astrocytes derived from PD patients, the natural distance for efficient Ca transfer was reduced, leading to decreased mitochondrial function, but restoring the 20 nm distance improved Ca uptake, suggesting new ways to manage mitochondrial health.
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Background: Physical inactivity is a major risk factor for noncommunicable diseases and a leading cause of premature death. The World Health Organization (WHO) recommends at least 150 minutes of moderate intensity physical activity (PA) weekly, regardless of age, gender, or personal habits. However, in both sports performance and clinical settings, personalized training (PT) regimens have shown superior efficacy over general guidelines.

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Bi-allelic pathogenic variants in GRID2 have been initially associated to an autosomal recessive form of spinocerebellar ataxia, namely SCAR18. Subsequently, few monoallelic cases have been described. Here we present a new subject harboring a novel de novo heterozygous GRID2 missense variant presenting with progressive ataxia together with cerebellar atrophy and, for the first time, alpha-fetoprotein (AFP) elevation.

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Malignant mesothelioma is a rare tumor associated with asbestos exposure. Mesothelioma carcinogenesis is related to enhanced reactive oxygen species (ROS) production and iron overload. Despite the recent advances in biomedical sciences, to date the only available treatments include surgery in a small fraction of patients and platinum-based chemotherapy in combination with pemetrexed.

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Objective: We assessed the Transcranial Electrical Stimulation (TES)-induced Corticobulbar-Motor Evoked Potentials (Cb-MEPs) evoked from Orbicularis Oculi (Oc) and Orbicularis Oris (Or) muscles with FCC5h/FCC6h-Mz, C3/C4-Cz and C5/C6/-Cz stimulation, during IntraOperative NeuroMonitoring (IONM) in 30 patients who underwent skull-base surgery.

Methods: before (T0) and after (T1) the surgery, we compared the peak-to-peak amplitudes of Cb-MEPs obtained from TES with C3/C4-Cz, C5/C6-Cz and FCC5h/FCC6h-Mz. Then, we compared the response category (present, absent and peripheral) related to different montages.

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  • Gait analysis studies in patients with primary hereditary cerebellar ataxia (pwCA) face challenges due to small sample sizes and unbalanced datasets.
  • The study aimed to evaluate how data balancing techniques and generative AI can create synthetic datasets that accurately reflect gait abnormalities in pwCA.
  • Using methods like conditional tabular generative adversarial networks (ctGAN), researchers found that ctGAN improved classification performance and provided better explainability for diagnostic models compared to traditional methods.
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Aging and its related disorders are important issues nowadays and the first cause of this physio-pathological condition is the overproduction of ROS. Ascorbic acid is an antioxidant mediator and its anti-aging proprieties are well known. Our previous data demonstrated that Voghera sweet pepper (VP), a distinctive type of pepper cultivated in Italy, is particularly rich in ascorbic acid.

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The current standard oncotherapy for glioblastoma is limited by several adverse side effects, leading to a short-term patient survival rate paralleled by a worsening quality of life (QoL). Recently, Complementary and Integrative Medicine's (CIM) innovative approaches have shown positive impacts in terms of better response to treatment, side effect reduction, and QoL improvement. In particular, promising potential in cancer therapy has been found in compounds coming from phyto- and mycotherapy.

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  • Autosomal-dominant spinocerebellar ataxia (ADCA) caused by GAA repeat expansion in the FGF14 gene, known as SCA27B, is a common form of late-onset ataxia recently identified in Italy.
  • A study was conducted on 396 patients diagnosed with late-onset cerebellar ataxias, revealing a prevalence of 13.4% for SCA27B, with higher rates in the ADCA subgroup, and detailing various clinical features like impaired balance and gait issues.
  • The findings indicate that SCA27B results in adult-onset, slowly progressive ataxia with consistent clinical characteristics across different populations, suggesting the need for larger, multi-center
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Introduction: Surgical training traditionally adheres to the apprenticeship paradigm, potentially exposing trainees to an increased risk of complications stemming from their limited experience. To mitigate this risk, augmented and virtual reality have been considered, though their effectiveness is difficult to assess.

Research Question: The PASSION study seeks to investigate the improvement of manual dexterity following intensive training with neurosurgical simulators and to discern how surgeons' psychometric characteristics may influence their learning process and surgical performance.

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One hundred years ago, Robert Feulgen published a landmark paper in which he described the first method to stain DNA in cells and tissues. Although a century has passed since the discovery by Feulgen and Rossenbeck, the chemical reaction still exerts an important influence in current histochemical studies. Its contribution in diverse fields, spanning from biomedicine to plant biology, has paved the way for the most significant studies that constitute our current knowledge.

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Introduction: Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG18 is a rare, early-onset, complicated HSP, first reported as linked to biallelic ERLIN2 mutations. Recent cases of late-onset, pure HSP with monoallelic ERLIN2 variants prompt inquiries into the zygosity of such genetic conditions.

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  • - Myotonic dystrophy is a genetic condition that affects multiple systems in the body, including the nervous and cardiovascular systems.
  • - The Italian Neuro-Cardiology Network (INCN-RNC) is a collaboration between neurology and cardio-arrhythmology units aimed at improving patient care.
  • - INCN helps establish integrated teams in Neuromuscular Disease Centers to better manage the cardiovascular issues associated with myotonic dystrophy type 1 (MD1).
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Background: Most neurological diseases have no curative treatment; therefore, focusing on prevention is key. Continuous research to uncover the protective and risk factors associated with different neurological diseases is crucial to successfully inform prevention strategies. eHealth has been showing promising advantages in healthcare and public health and may therefore be relevant to facilitate epidemiological studies.

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Objective: In Friedreich's ataxia research, the focus is on discovering treatments and biomarkers to assess disease severity and treatment effects. Our study examines high-resolution nerve ultrasound in these patients, seeking correlations with established clinical markers of disease severity.

Method: Ten patients with Friedreich's Ataxia underwent a comprehensive clinical assessment with established scales (SARA, FARS, mFARS, INCAT, ADL 0-36, IADL).

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Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or Marinesco-Sjögren Syndrome.

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This study aimed to assess the responsiveness to the rehabilitation of three trunk acceleration-derived gait indexes, namely the harmonic ratio (HR), the short-term longest Lyapunov's exponent (sLLE), and the step-to-step coefficient of variation (CV), in a sample of subjects with primary degenerative cerebellar ataxia (swCA), and investigate the correlations between their improvements (∆), clinical characteristics, and spatio-temporal and kinematic gait features. The trunk acceleration patterns in the antero-posterior (AP), medio-lateral (ML), and vertical (V) directions during gait of 21 swCA were recorded using a magneto-inertial measurement unit placed at the lower back before (T0) and after (T1) a period of inpatient rehabilitation. For comparison, a sample of 21 age- and gait speed-matched healthy subjects (HS) was also included.

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The lack of early detection and a high rate of recurrence/progression after surgery are defined as the most common causes of a very poor prognosis of Gliomas. The developments of quantification systems with special regards to artificial intelligence (AI) on medical images (CT, MRI, PET) are under evaluation in the clinical and research context in view of several applications providing different information related to the reconstruction of imaging, the segmentation of tissues acquired, the selection of features, and the proper data analyses. Different approaches of AI have been proposed as the machine and deep learning, which utilize artificial neural networks inspired by neuronal architectures.

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Cells are continuously exposed to various sources of insults, among which temperature variations are extremely common. Epigenetic mechanisms, critical players in gene expression regulation, undergo alterations due to these stressors, potentially leading to health issues. Despite the significance of DNA methylation and histone modifications in gene expression regulation, their changes following heat and cold shock in human cells remain poorly understood.

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Background: Venous thromboembolism (VTE) and major bleeding (MB) are common in cancer patients. Reduced-doses of antithrombotics as secondary prophylaxis have limited data. This work aims to describe and to compare treatments and outcomes for cancer-associated VTE.

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Physiologically, renal medullary cells are surrounded by a hyperosmolar interstitium. However, different pathological situations can induce abrupt changes in environmental osmolality, causing cell stress. Therefore, renal cells must adapt to survive in this new condition.

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