A5057287138- Myasthenia Gravis and Thymoma
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Pituitary Gland Disorders and Treatments
- Peripheral Neuropathies and Disorders
- EEG and Brain-Computer Interfaces
- Parkinson's Disease and Spinal Disorders
- Sleep and Wakefulness Research
- HIV/AIDS drug development and treatment
- Autoimmune Neurological Disorders and Treatments
- HIV Research and Treatment
- Pharmacological Effects and Toxicity Studies
- Thyroid and Parathyroid Surgery
- Meningioma and schwannoma management
- HIV/AIDS Research and Interventions
- Amyloidosis: Diagnosis, Treatment, Outcomes
- IgG4-Related and Inflammatory Diseases
- Cancer Treatment and Pharmacology
- Neuroendocrine Tumor Research Advances
- Cancer Immunotherapy and Biomarkers
- Management of metastatic bone disease
- Hepatitis C virus research
- Genetics and Neurodevelopmental Disorders
- Adrenal Hormones and Disorders
- Antifungal resistance and susceptibility
University of Pisa
2014-2024
Azienda Ospedaliera Universitaria Pisana
2013-2024
Ospedale Santa Chiara
2015
Significance Our study, involving 1,873 patients and 36,370 healthy individuals, is an extensive genome-wide study of myasthenia gravis. association transcriptome-wide analyses identified two signals, namely CHRNA1 CHRNB1 , encoding acetylcholine receptor subunits, which were replicated in independent cohort obtained from the UK Biobank. Identifying these genes confirms potential utility using genetics to identify proteins that are antigenic targets autoantibodies. We confirmed genetic...
Abstract Introduction/Aims The global incidence and prevalence of myasthenia gravis (MG) range between 6–31/million 10–37/100,000, respectively. Sardinia is a high‐risk region for different immune‐mediated disorders, but the epidemiology MG remains unclear. We determined with acetylcholine receptor (AChR)‐immunoglobulin G (IgG) muscle‐specific tyrosine kinase (MuSK)‐IgG in district Sassari (North‐Western Sardinia; population, 325,288). Methods From laboratory University Hospital (reference...
IgG4 is associated with two emerging groups of rare diseases: 1) autoimmune diseases (IgG4-AID) and 2) IgG4-related (IgG4-RLD). Anti-neuronal IgG4-AID include MuSK myasthenia gravis, LGI1- Caspr2-encephalitis nodo-/paranodopathies (CNTN1/Caspr1 or NF155 antibodies). IgG4-RLD a multiorgan disease hallmarked by tissue-destructive fibrotic lesions lymphocyte plasma cell infiltrates increased serum concentrations. It unclear whether share relevant clinical immunopathological features. We...
Introduction Muscle-specific kinase (MuSK)- myasthenia gravis (MG) is caused by pathogenic autoantibodies against MuSK that correlate with disease severity and are predominantly of the IgG4 subclass. The first-line treatment for MuSK-MG general immunosuppression corticosteroids, but effect on levels has not been studied. Methods We analyzed clinical data sera from 52 patients (45 female, 7 male, median age 49 (range 17–79) years) Italy, Netherlands, Greece Belgium, 43 AChR-MG (22 21 63 2–82)...
Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are often involved the development of autoimmunity. The XCI pattern can lead to an unbalanced expression some X-linked genes, observed several disorders female predominance. No data yet available regarding MG. We hypothesize that preferential may...
Thymectomy is the gold standard in treatment of thymic neoplasm and plays a key role therapeutic path myasthenia gravis. For years, sternotomy has been traditional approach for removing anterior mediastinal lesions, although robotic thymectomy now widely performed. The literature still lacking papers comparing two approaches evaluating long-term oncological neurological outcomes. This study aims to analyze postoperative results open neoplasms myasthenic patients. Surgical, data patients...
Acquired neuromyotonia can occur in patients with thymoma, alone or association myasthenia gravis (MG), but the clinical prognostic significance of such comorbidity is largely unknown. The clinico-pathological features were investigated along occurrence as predictors tumour recurrence thymoma-associated myasthenia.A total number 268 thymomatous MG studied retrospectively. Patients symptoms spontaneous muscle overactivity selected for autoantibody testing using immunohistology neuronal...
Our aim was to evaluate the EEG and clinical modifications induced by new antiepileptic drug lacosamide (LCM) in patients with epilepsy. We evaluated 10 affected focal pharmacoresistant epilepsy which LCM (mean 250 mg/day) added preexisting therapy, left unmodified. Morning waking recording performed before ( t 0) at 6 months 1) after starting LCM. At 0 1, were also administered questionnaires evaluating mood, anxiety, sleep, sleepiness, fatigue (Beck Depression Inventory; State-Trait...
<h3>Background</h3> General paresis (GP) is a late form of parenchymal neurosyphilis causing dementia and neuropsychiatric disorders. The diagnosis often difficult since the clinical signs are protean. So far, neuroimaging has played minor role as radiological findings not specific. <h3>Methods</h3> We studied three immunocompetent patients, admitted to hospital for cognitive impairment. was formulated on basis serological texts cerebrospinal fluid analysis. patients underwent 3 T MR...
The goal of this study was to analyse the outcomes in 53 patients with thymoma, 34 whom had myasthenia gravis (MG), who were treated robotic surgery. oncological whole series analysed. Furthermore, because consistent data are not yet available literature, main focus analysis neurological results affected by MG and thymoma.The clinical a diagnosis thymoma underwent thymectomy between January 2014 December 2019 our institution collected evaluated; these concomitant MG. status determined from...
Background Thymoma‐associated myasthenia gravis (TAMG) is one of the subtypes with autoantibodies against acetylcholine receptor (AChR‐Ab). We analyzed clinical features our cohort TAMG patients and changes in AChR‐Ab titer before after thymectomy order to identify factors predicting thymoma relapses. Methods retrospectively assessed: age MG onset, status according MGFA (Myasthenia Gravis Foundation America), epoch thymectomy, post‐thymectomy status, oncological surgical approach. dosages...
Background Thymic epithelial tumors are rare malignant neoplasms that frequently associated with paraneoplastic syndromes, especially myasthenia gravis. GTF2I is an oncogene mutated in a subgroup of thymomas reputed to drive their growth. However, for wild-type tumors, the relevant mutations remain be identified. Methods We performed meta-analysis and identified 4,208 339 patients. defined panel 63 genes thymic which we used design custom assay next-generation sequencing. sequenced tumor DNA...
The thymus plays a central role in immune tolerance, which prevents autoimmunity. Myasthenia gravis (MG) is commonly associated with thymoma or hyperplasia, and it can coexist autoimmune thyroid diseases. However, the of autoimmunity remains to be clarified, we investigated here.The study design entailed inclusion consecutive MG patients measurement anti-thyroid autoantibodies at baseline and, limited autoantibody-positive patients, also 24 48 weeks. One hundred seven were studied. main...
EEG after sleep deprivation (SD-EEG) is widely used in many epilepsy centers as an important tool the diagnosis process. However, more than 40 years of use, there are a number issues which still need to be clarified concerning its features and role. In particular, scientific papers addressing role often differ remarkably from each other terms type patients assessed, their description study design. Furthermore, also length performed SD, well SD itself, vary dramatically one another. this...
Abstract Background IgG4 is associated with two emerging groups of rare diseases: 1) autoimmune diseases (IgG4-AID) and 2) IgG4-related (IgG4-RLD). Anti-neuronal IgG4-AID include MuSK myasthenia gravis, LGI1- Caspr2-encephalitis nodo-/paranodopathies (CNTN1 or NF155 antibodies). IgG4-RLD a multiorgan disease hallmarked by tissue-destructive fibrotic lesions lymphocyte plasma cell infiltrates increased serum concentrations. It unclear, whether share relevant clinical immunopathological...