Publications by authors named "Mariotto S"

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.

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Background: Epstein-Barr virus (EBV) infection increases the risk of having multiple sclerosis (MS). Data on adults with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are lacking.

Objective: To compare EBV serological status in MOGAD versus MS.

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Background And Objectives: The role of the complement system in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is not completely understood, and studies exploring its potential utility for diagnosis and prognosis are lacking. We aimed to investigate the value of complement factors (CFs) as diagnostic and prognostic biomarkers in patients with MOGAD.

Methods: Multicentric retrospective cohort study including patients with MOGAD, multiple sclerosis (MS) and aquaporin-4 seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD) with available paired serum and CSF samples.

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Cognitive impairment (CI) is common in α-synucleinopathies, i.e., Parkinson's disease, Lewy bodies dementia, and multiple system atrophy.

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Anti-IgLON5 disease is a unique condition that bridges autoimmunity and neurodegeneration. Since its initial description 10 years ago, an increasing number of autopsies has led to the observation of a broader spectrum of neuropathologies underlying a particular constellation of clinical symptoms. In this study, we describe the neuropathological findings in 22 patients with anti-IgLON5 disease from 9 different European centers.

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Background And Aims: Functional motor disorders (FMD) present a prevalent, yet misunderstood spectrum of neurological conditions characterized by abnormal movements (i.e., functional limb weakness, tremor, dystonia, gait impairments), leading to substantial disability and diminished quality of life.

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  • This study investigates the clinical characteristics of neurologic immune-related adverse events (n-irAEs) linked to immune checkpoint inhibitors (ICIs) and their potential to become chronic.
  • A total of 66 patients were analyzed, with findings showing that a significant portion experienced chronic n-irAEs, particularly affecting the peripheral nervous system and leading to various neurological impairments.
  • The study highlights that patients with concurrent myocarditis had a higher risk of fatal outcomes, and chronic n-irAEs often required ongoing treatment or resulted in persistent neurological issues like ataxia and cognitive impairment.
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  • The study applied the 2022 international consensus criteria for optic neuritis (ICON) to 160 patients with acute optic neuritis to assess its effectiveness in classification.
  • About 50% of the patients were classified as definite optic neuritis, while 43% were not classified as having ON, mainly due to the absence of critical symptoms like relative afferent pupillary defect (RAPD) and dyschromatopsia.
  • The adjusted criteria led to a higher classification of 79% of patients as having optic neuritis, highlighting the importance of thorough examinations for accurate diagnosis.*
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Background: The presence of inflammatory changes in the cerebrospinal fluid (CSF), including immunoglobulin intrathecal synthesis (IS), can support the diagnosis of autoimmune encephalitis (AE) and allow prompt treatment. The main aim of our study was to calculate the Kappa index as a marker of IS, in patients with AE.

Methods: Charts of patients undergoing a diagnostic work-up for suspected AE between 2009 and 2023 were reviewed and the Graus criteria applied.

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  • This study investigates how comorbidities, especially vascular ones, affect patients with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and MOG-antibody-associated disease (MOGAD), potentially worsening their neurological condition.* -
  • The proposed study, called COMMIT, will involve a diverse group of patients and will analyze various biological markers related to inflammation and neurodegeneration using advanced technologies and data analysis methods.* -
  • The ultimate aim is to understand the influence of comorbidities on the clinical outcomes of these CNS diseases, potentially leading to better treatment strategies for improving patient health and quality of life.*
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Extracellular Vesicles (EVs) have been proposed as a promising tool for drug delivery because of their natural ability to cross biological barriers, protect their cargo, and target specific cells. Moreover, EVs are not recognized by the immune system as foreign, reducing the risk of an immune response and enhancing biocompatibility. Herein, we proposed an alternative therapeutic strategy to restore STAT3 signaling exploiting STAT3 loaded EVs.

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  • Recent studies suggest that myelin oligodendrocyte glycoprotein antibody-associated disease could be a rare complication linked to either SARS-CoV-2 infection or vaccination.
  • The research aims to determine if there's an immune response overlap between SARS-CoV-2 proteins and myelin oligodendrocyte glycoprotein, which could explain the condition's occurrence.
  • Serum samples from various groups with different histories of SARS-CoV-2 infection and neurological symptoms were analyzed to assess antibody responses against both myelin oligodendrocyte glycoprotein and SARS-CoV-2, among other common coronaviruses.
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  • Anti-IgLON5 disease is an autoimmune encephalitis that often goes undiagnosed, characterized by diverse symptoms affecting sleep, movement, and other functions.
  • A study of 87 patients revealed strong associations between the disease and specific HLA-DQ genotypes, indicating a genetic predisposition to its development.
  • Experiments showed that modified IgLON5 peptides preferentially bind to these HLA-DQ receptors, suggesting that this interaction could trigger T-cell responses involved in initiating the disease.
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  • Immune checkpoint inhibitors (ICIs) can lead to autoimmune neurological issues, including movement disorders (MD), which are rare but potentially serious side effects of cancer treatment.
  • A study reviewed 26 articles involving 28 patients who experienced MDs as immune-related adverse events (irAEs) after receiving ICIs, revealing varied clinical presentations and often occurring alongside other irAEs.
  • Most cases showed signs of inflammation in cerebrospinal fluid, and treatment with steroids or stopping ICIs generally helped, though some patients faced relapses or severe outcomes.
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This study analyzed ten fish species (three farmed and seven wild-caught) to determine their centesimal composition (assessed by AOAC methods) and lipid profile (analyzed by GC-MS). Notably, "tambatinga" (farmed) and "piraputanga" (wild-caught) stood out with 28.66 % and 26.

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  • - The study investigates a new test (indirect immunofluorescence cell-based assay, CBA) for detecting anti-MAG IgM antibodies, which are linked to an autoimmune disorder affecting peripheral nerves.
  • - Researchers tested this new method on samples from 95 patients with confirmed anti-MAG neuropathy and 55 patients with other neuropathy types, showing a very high sensitivity of 98.9% and a perfect specificity of 100% compared to the traditional testing method (ELISA).
  • - The CBA offers a faster and easier way to detect these antibodies and could potentially improve the monitoring of anti-MAG levels over time, although further large studies are recommended for more robust findings.
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Background And Objectives: Glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) serum levels are useful to define disease activity in different neurologic conditions. These biomarkers are increased in patients with aquaporin-4 antibody-positive NMOSD (AQP4+NMOSD) during clinical attacks suggesting a concomitant axonal and glial damage. However, there are contradictory results in double seronegative NMOSD (DS-NMOSD).

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  • Breast Cancer is the most common cancer in the world, but current treatments can hurt healthy tissues and sometimes don't work well.
  • Researchers are looking into natural plant chemicals and essential oils because they might target tumors safely and effectively.
  • Using technology, scientists have found ways to improve the effectiveness of essential oils in fighting breast cancer, making them more stable and easier to use in treatments.
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Background: Microfibrillar-associated protein 4 (MFAP4) is an extracellular matrix protein not previously described in the human central nervous system (CNS).

Objectives: We determined MFAP4 CNS expression and measured cerebrospinal fluid (CSF) and serum levels.

Methods: Tissue was sampled at autopsy from patients with acute multiple sclerosis (MS) ( = 3), progressive MS ( = 3), neuromyelitis optica spectrum disorder (NMOSD) ( = 2), and controls ( = 9), including 6 healthy controls (HC).

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  • The study investigated nine cases, revealing that patients in later stages often presented with significant tauopathy, while those in earlier stages displayed primary age-related pathology.
  • Findings showed a notable deposition of IgG4 antibodies in brain regions associated with tau pathology, suggesting that early immunotherapy could be essential to prevent lasting neuronal damage.
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  • Differentiating neuromyelitis optica spectrum disorder (NMOSD) from similar conditions is essential to prevent misdiagnosis, particularly without the presence of aquaporin-4-IgG.* -
  • A systematic review of 68 cases identified various non-demyelinating disorders that were misdiagnosed as NMOSD, with 82% of patients not meeting the 2015 diagnostic criteria; common symptoms included myelopathy and optic neuropathy.* -
  • Key red flags for misdiagnosis included absence of cerebrospinal fluid pleocytosis, lack of response to immunotherapy, progressive disease course, and no gadolinium enhancement in MRI scans.*
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  • A study investigated the effectiveness of intravenous immunoglobulins (IVIGs) for treating acute myelin oligodendrocyte glycoprotein antibody disease (MOGAD) attacks.
  • The research involved analyzing data from 39 patients across seven neuroimmunology centers, focusing on patient demographics and symptoms before and after IVIG treatment.
  • Results showed significant improvements in disability and visual acuity following IVIG administration, suggesting it may be a beneficial treatment for MOGAD, although further studies are needed to confirm these findings.
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  • The study investigates the relationship between myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD) and tumors, finding only 1% of MOGAD patients had a neoplasm within 2 years of disease onset.
  • It reports on a total of 17 cases (including two from their cohort and 15 from literature), highlighting that most patients are around 39 years old with varied clinical presentations (like ADEM and optic neuritis).
  • The findings suggest MOG antibodies have a low association with paraneoplastic neurological syndromes, with a wide range of tumor types observed and a high rate of treatment improvement in patients.
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