Carotid free-floating thrombus during COVID-19 vaccine era: causality or not?

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 vaccine BNT162b1 (Pfizer/BioNTech) for Severe Acute Respiratory Syndrome-CoronaVirus 2 (SARS-CoV-2).

Methotrexate as a Steroid-Sparing Agent in Myasthenia Gravis: A Preliminary Retrospective Study.

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) administration showed controversial results.

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.

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 FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely.

Aging-associated genes and microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.

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 been shown to be governed by lethal-7 () microRNA-mediated mechanisms, in the present study, we evaluated the role of in the pathogenesis of OPMD. By a multidisciplinary approach, including confocal microscopy, Western blot, and quantitative PCR analyses on muscle biopsies from patients and unaffected individuals, we found a significant increase in expression in OPMD muscles associated with an unusual high percentage of paired box 7-positive satellite cells.

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).

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. We examined blood smear of 26 LOPD patients. We evaluated 10 treated and 16 untreated LOPD patients.

Acute onset of bulbar amyotrophic lateral sclerosis after flu - look at the differential diagnosis: A case report.

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.

Involvement of miR-126 in autoimmune disorders.

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 have also been made in determining the role of miR-126 regulating immune-related diseases; probably, in a near future, they could potentially serve as diagnostic biomarkers or therapeutic targets.

Objective: The purpose of this review is to investigate the role of miR-126 in autoimmune diseases, so as to offer innovative therapies.

Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1.

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.

Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports.

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 and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (QMG) and activities of daily living scales, and autonomic nervous system involvement evaluation.

Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach.

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 signs and symptoms, which are frequently found in PNESs, were chosen for statistical validation of our classification.