Publications by authors named "Fede G"

: While post-acute COVID-19 syndrome is well known and extensively studied, the post-acute COVID vaccination syndrome (PACVS) is a more recent nosological entity that is poorly defined at the immunopathological level, although it shares many symptoms with the sequelae of viral infections. : This single-center retrospective study reports a case series of 17 subjects vaccinated with mRNA or adenoviral vector vaccines who were healthy before vaccination and had never been infected with SARS-CoV-2 but who presented with symptoms similar to PACVS for a median time of 20 months (min 4, max 32). The medical records of all patients referred to our outpatient clinic over a one-year period were retrospectively analyzed.

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Alzheimer's disease, the leading cause of dementia globally, represents an unresolved clinical challenge due to its complex pathogenesis and the absence of effective treatments. Considering the multifactorial etiology of the disease, mainly characterized by the accumulation of amyloid β plaques and neurofibrillary tangles of tau protein, we discuss the A673V mutation in the gene coding for the amyloid precursor protein, which is associated with the familial form of Alzheimer's disease in a homozygous state. The mutation offers new insights into the molecular mechanisms of the disease, particularly regarding the contrasting roles of the A2V and A2T mutations in amyloid β peptide aggregation and toxicity.

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Despite the great number of experimental investigations in the area of psycho-neuro-endocrine-immunology showing that endocrine, nervous, and immune systems cannot be in vivo physiologically separated, the diagnosis and therapies of the pathologies of these three functional biological systems continue to be separately performed from a clinical practice point of view. The separation between experimental and clinical medicine became dramatic after the discovery of more than 10 human molecules provided by anti-inflammatory and antitumor activity, completely devoid of any toxicity, which may be subdivided into three fundamental classes, consisting of the pineal indole, beta-carboline, and methoxy-kynuramine hormones. Moreover, human systemic diseases, including cancer, autoimmunity, and cardiovascular pathologies, despite their different pathogenesis and symptomatology, are commonly characterized by a progressive decline in the endogenous production of pineal hormones, endocannabinoids, and Ang 1-7, with a consequent inflammatory status and diminished natural resistance against cancer.

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Article Synopsis
  • A new subset of cerebral amyloid angiopathy (CAA) patients, termed iatrogenic CAA (iCAA), is characterized by early onset and is believed to be caused by medical factors, differing from sporadic CAA (sCAA).
  • The study involved analyzing cerebrospinal fluid (CSF) and plasma levels of β-Amyloid and tau proteins in patients diagnosed with either iCAA or sCAA in a clinical setting across two research centers.
  • Results indicated that patients with sCAA had more cognitive impairments and cardiovascular risks compared to iCAA patients, but levels of key biomarkers (Aβ40, Aβ42, total tau) in both CSF and plasma were similar between the two groups.
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We present the case of a female who developed cerebral venous thrombosis with thrombocytopenia after inoculation with the anti-coronavirus disease 2019 (COVID-19) Vaxzevria vaccine, followed by splanchnic thrombosis and diffuse hemorrhages. Despite receiving treatment, the complications increased, and hence therapeutic plasma exchange (TPE) was attempted, leading to laboratory and clinical improvements and discharge after a period of intensive care. Almost two years after the first episode, in the interim of which the patient complained of only minor symptoms such as asthenia and difficulty concentrating, she developed an epileptic syndrome that required neurological treatment.

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Introduction: High repeat expansion (HRE) alleles in have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretation of molecular data lacks a defined genotype-phenotype association. In this study, we provide results from a large multicenter epidemiological study reporting the distribution of repeats in healthy elderly from the Italian population.

Methods: A total of 967 samples were collected from neurologically evaluated healthy individuals over 70 years of age in the 13 institutes participating in the RIN (IRCCS Network of Neuroscience and Neurorehabilitation) based in Italy.

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The accumulation of protein aggregates defines distinct, yet overlapping pathologies such as Alzheimer's disease (AD), dementia with Lewy bodies (DLB), and frontotemporal dementia (FTD). In this study, we investigated ATG5, UBQLN2, ULK1, and LC3 concentrations in 66 brain specimens and 120 plasma samples from AD, DLB, FTD, and control subjects (CTRL). Protein concentration was measured with ELISA kits in temporal, frontal, and occipital cortex specimens of 32 AD, 10 DLB, 10 FTD, and 14 CTRL, and in plasma samples of 30 AD, 30 DLB, 30 FTD, and 30 CTRL.

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Background: Ankle fractures are common injuries in the young and elderly populations. To prevent post-traumatic arthritis, an anatomic reconstruction of the ankle structure is mandatory. Open reduction and internal fixation is the treatment of choice among orthopaedics.

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Alzheimer's disease (AD), the leading cause of dementia in older adults, is a double proteinopathy characterized by amyloid-β (Aβ) and tau pathology. Despite enormous efforts that have been spent in the last decades to find effective therapies, late pharmacological interventions along the course of the disease, inaccurate clinical methodologies in the enrollment of patients, and inadequate biomarkers for evaluating drug efficacy have not allowed the development of an effective therapeutic strategy. The approaches followed so far for developing drugs or antibodies focused solely on targeting Aβ or tau protein.

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The current classification of sporadic Creutzfeldt-Jakob disease identifies six major subtypes mainly defined by the combination of the genotype at polymorphic codon 129 (methionine/M or valine/V) of the prion protein gene and the type (1 or 2) of misfolded prion protein accumulating in the brain (e.g. MM1, MM2, MV1, MV2, etc.

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Cerebral amyloid angiopathy (CAA) is a small vessel disease, causing spontaneous intracerebral hemorrhage (ICH) in the elderly. It is strongly associated with Alzheimer disease (AD), as most CAA patients show deposition of Aβ-i.e.

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Semantic and right temporal variant of frontotemporal dementia (svFTD and rtvFTD) are rare clinical phenotypes in which, in most cases, the underlying pathology is TDP-43 proteinopathy. They are usually sporadic disorders, but recent evidences suggest a higher frequency of genetic mutations for the right temporal versus the semantic variant. However, the genetic basis of these forms is not clear.

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Alzheimer's disease (AD) is an irreversible neurodegenerative disorder that affects millions of people worldwide. AD pathogenesis is intricate. It primarily involves two main molecular players-amyloid-β (Aβ) and tau-which actually have an intrinsic trend to generate molecular assemblies that are toxic to neurons.

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Background And Purpose: Cerebral amyloid angiopathy (CAA) has been associated with a variety of neurodegenerative disorders, included prion diseases and Alzheimer's disease; its pathophysiology is still largely unknown. We report the case of an 80-year-old man with rapidly progressive dementia and neuroimaging features consistent with CAA carrying two genetic defects in the PRNP and SORL1 genes.

Methods: Neurological examination, brain magnetic resonance imaging (MRI), electroencephalographic-electromyographic (EEG-EMG) polygraphy, and analysis of 14-3-3 and tau proteins, Aβ40, and Aβ42 in the cerebrospinal fluid (CSF) were performed.

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Introduction And Importance: Subhepatic acute appendicitis (SHAA) is a very rare cause of acute abdomen, developing in association with two types of congenital anomalies like as midgut malrotation (MM) and maldescent of the caecum. Preoperative diagnosis of SHAA is a challenge because of its rarity and atypical presentation. Imaging may be helpful for determining the correct diagnosis.

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Introduction And Importance: Desmoid Fibromatosis (DF) represents a rare neoplasm developing from fascial and musculoaponeurotic structures. Preoperative diagnosis of DF is a challenge because of its rarity and nonspecific presentation. Imaging may be helpful for determining the correct diagnosis.

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Serpins represent the most broadly distributed superfamily of proteases inhibitors. They contribute to a variety of physiological functions and any alteration of the serpin-protease equilibrium can lead to severe consequences. SERPINA3 dysregulation has been associated with Alzheimer's disease (AD) and prion diseases.

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Article Synopsis
  • Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare brain disorder caused by improperly folded prion proteins, with different strains linked to genetic variations and outcomes.
  • Diagnosis of sCJD typically occurs post-mortem through brain analysis, but new techniques like Real-Time Quaking-Induced Conversion (RT-QuIC) have shown prion proteins can also be found in the olfactory mucosa (OM) of living patients.
  • An optimized method called protein misfolding cyclic amplification (PMCA) successfully detected prion proteins in OM samples with high sensitivity (79.3%) and specificity (100%), although it didn't differentiate sCJD subtypes from living patients
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Aim: Our aim was to evaluate the psychological impact of predictive genetic testing in individuals at-risk for inherited dementia who underwent a structured counseling and testing protocol.

Methods: Participants were healthy at-risk relatives from families with at least one affected patient, in whom a disease-associated genetic variant had been ascertained. A comprehensive psychological assessment (personality, anxiety and depression, quality of life, coping strategies, resilience and health-related beliefs) was administered at baseline, at 6 months and 12 months follow-up.

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Mutations in presenilin 1 gene (PSEN1) are the most common causes of autosomal dominant early-onset Alzheimer's disease (EOAD). We report a novel PSEN1 mutation (I213S) that was discovered in an Italian patient with a family history of early-onset dementia, who developed a slowly progressive cognitive decline since the age of 40 years. Clinical investigations, including neuropsychological assessment, brain MRI and 18-fluorodeoxyglucose PET, as well as cerebrospinal fluid biomarkers, supported the diagnosis of EOAD.

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