Teresa Brizzi's research while affiliated with Università degli Studi di Messina and other places
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Publications (17)
Introduction. Spinal cord ischemia (SCI) accounts for less than 1% of all strokes, and mostly affects the anterior cord. The ascending aorta (AA) is the rarest site of localization for aortic thrombi (5%). We report a singular case of posterior SCI due to a floating thrombus in the AA. Case presentation. A 75-year-old male with acute left hemipares...
Background:
Paraneoplastic neurological syndromes (PNSs) are nonmetastatic complications of malignancy, defined by the presence of onconeural antibodies (ONAs). ONAs may be found in 60% of patients with central nervous system (CNS) involvement, and they are directed against intraneuronal antigens or channels, receptors or associated proteins locat...
INTRODUCTION: Spinal cord ischemia (SCI) accounts for less than 1% of all strokes, mostly affecting the anterior cord. The ascending aorta (AA) is the rarest site of localization for aortic thrombi (5%). We report a singular case of posterior SCI due to a floating thrombus in the AA. CASE PRESENTATION: A 75-year-old male presented with acute left h...
Carotid free-floating thrombus (FFT) is very rarely diagnosed in patients with acute ischemic stroke. It is a real clinical emergency due to the significant risk of death associated with thromboembolic complications. Herein, we present three patients with ischemic stroke caused by carotid FFT after less than 20 days from administration of mRNA vacc...
Objectives:
Treatment approach of myasthenia gravis (MG) is still debated; corticosteroids alone or in combination with immunosuppressive agents are the most used drugs. Azathioprine (AZA) has been shown to be effective for MG with a significant steroid-sparing activity, although burdened by side effects. Few studies on methotrexate (MTX) administ...
Spinal cord ischemia (SCI) accounts for less than 1% of all strokes. We report a singular case of SCI due to a floating thrombus (FT) in the ascending aorta (AA).
A 75-year-old male presented to our hospital with acute left hemiparesis and hemihypoesthesia, NIHSS 3. His medical history was unremarkable, except for former cigarette smoking. The bra...
Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and...
Objective:
To assess the value of insoluble PABPN1 muscle fibres nuclei accumulation in the diagnosis of atypical cases of Oculopharyngeal muscular dystrophy (OPMD).
Methods:
We analysed muscle biopsies from a selected cohort of 423 adult patients by immunofluorescence from several Italian neuromuscular centres: 30 muscle biopsies of genetically...
Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate‐binding protein nuclear 1 gene and consequent mRNA processing impairment and myogenic defects. Because a reduced cell proliferation potential and the consequent regeneration failure of aging muscle have bee...
Background: Primary aim was to investigate the diagnostic value of PAS-positive vacuolated lymphocytes on blood smear in Late Onset Pompe Disease (LOPD) patients and, secondly, to evaluate its potential utility in monitoring treatment effects.
Methods: We examined blood smear of 26 LOPD patients. We evaluated 10 treated and 16 untreated LOPD patien...
Background
Late Onset Pompe Disease (LOPD) is a rare, multisystem disorder, that is well established to mainly impair skeletal muscle function.
Systematic studies exploring brain functions in LOPD are lacking. Aim of this study is to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD.
Materials a...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiolo...
Background
Micro-RNA represent a great family of small non-condign ribonucleic acid molecules; in particular microRNA-126 is an important member of this family and is expressed in many human cells such as cardiomyocytes, endothelial and lung cells. Some studies have shown the implication of miR-126 in cancer, but recently significant progresses hav...
Objective:
The objective of this study was to explore the short-term effects of repetitive transcranial magnetic stimulation (rTMS) on action myoclonus.
Methods:
Nine patients with Unverricht-Lundborg (EPM1) progressive myoclonus epilepsy type underwent two series of 500 stimuli at 0.3Hz through round coil twice a day for five consecutive days....
Rationale
To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert–Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids.
Patient concerns
Patients have been evaluated at specific timepoints (ie, baseline...
The aim of this study was to validate a novel classification for the diagnosis of PNESs. Fifty-five PNES video-EEG recordings were retrospectively analyzed by four epileptologists and one psychiatrist in a blind manner and classified into four distinct groups: Hypermotor (H), Akinetic (A), Focal Motor (FM), and with Subjective Symptoms (SS). Eleven...
Citations
... These antibodies are not considered directly pathogenic but act as targets for cytotoxic T-cell infiltration through cross-reactive intracellular epitopes [8]. Patients typically do not respond well to standard immunomodulatory treatments; tumor treatment remains the primary line of therapy [9]. Due to their life-threatening complications, we employed steroids as rescue bridging therapy in both cases until definitive treatment (surgical excision, chemotherapy, or radiation treatment) could be initiated. ...
... RCTs that have produced a positive result for standard immunosuppressants in MG include those for azathioprine, tacrolimus, ciclosporin and cyclophosphamide [3] . Randomised trials for mycophenolate mofetil and methotrexate failed to prove benefit, [3] however this may be due to a number of factors including trial duration and high placebo effect, [4] with retrospective studies demonstrating benefit [5][6][7] . Additionally, an RCT comparing azathioprine and methotrexate found similar efficacy and tolerability between the two agents, though showed earlier onset of effect for methotrexate [8] . ...
... In the heterozygous state, a D4Z4 reduction might produce a subclinical sensitized condition that requires other epigenetic mechanisms or a contributing factor to cause overt myopathy. In some cases, it might be by the simultaneous heterozygosity for a different and recessive myopathy, as suggested by many reports in which the FSHD contractions are found in association with a second molecular defect [75,[93][94][95][96][97][98][99][100][101][102]. Alternatively, as our ndings are suggesting, environmental changes that affect chromatin modi cations at 4q35 could generate an abnormal quantity of subtelomeric transcripts in cells with a DRA. ...
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... Furthermore, immunohistochemistry for anti-PABPN1 revealed intranuclear accumulation of insoluble PABPN1 colocalized with p62 (Fig. 2D). The presence of intranuclear-insoluble PABPN1 accumulation has been reported as highly specific (96%) for OPMD [7]. ...
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... Next, we examined the expression of perlecan protein in muscle tissue sections from the patient and control via double immunofluorescence using a specific domain V antiperlecan antibody and, as a positive control, anti-fibronectin antibody ( Figure 4B). The immunostaining protocol was adapted from [16]. Briefly, cryosections were fixed in 4% paraformaldehyde, permeabilized in 0.1% Triton X-100 and then blocked in 5% bovine serum albumin in PBS. ...
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... Without treatment, most classical infantile patients die within the first year of life [10,11]. In LOPD, initial clinical manifestations, such as muscle weakness, exercise intolerance, myalgia, or even isolated hyperCKemia, often appear unspecific and may mimic a large variety of other muscle disorders such as limb-girdle muscular dystrophies, congenital, metabolic, or inflammatory myopathies [12,13]. Due to these symptoms, the rheumatologist is often the first specialist to be engaged. ...
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... En las últimas etapas, los pacientes van a requerir dispositivos de ventilación asistida. La causa de muerte generalmente es por insuficiencia respiratoria (5,28,29). ...
... Studies were most frequently from the United States (16.7%) [4][5][6][7][8][9][10][11][12][13][14] and China (15.1%) [15][16][17][18][19][20][21][22][23][24]. A majority of the studies were observational studies including case-control design (68.2%) [4,6,10,, cross-sectional (12.1%) [9,11,[53][54][55][56][57][58], cohort studies (6.0%) [59][60][61][62], and case studies (12.1%) [7,8,[63][64][65][66][67][68], One study was experimental [5] and one was a Mendelian randomized study [69] Bhatt ...
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... The modulation of gene expression by miR-155 can impact the balance between pro-and anti-atherogenic signals within vascular tissue, resulting in either the promotion or inhibition of atherosclerotic plaque formation [55]. Furthermore, miR-155 has been linked to autoimmune disorders, where its dysregulation contributes to disease pathogenesis [56]. ...
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... One patient discontinued treatment due to worsening of myoclonus. The 8 patients who completed the protocol demonstrated a 25% improvement in myoclonus severity scales [55]. A series of 7 patients with epilepsia partialis continua of varying etiology were treated with low-frequency repetitive TMS with or without highfrequency repetitive TMS over the primary motor cortex. ...
Reference: Physiology-Based Treatment of Myoclonus
