A5023663228- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- ATP Synthase and ATPases Research
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Antifungal resistance and susceptibility
- Dermatological and Skeletal Disorders
- Ion channel regulation and function
- Skin and Cellular Biology Research
- Intestinal Malrotation and Obstruction Disorders
- Travel-related health issues
- Dysphagia Assessment and Management
- Biomedical Text Mining and Ontologies
- Legionella and Acanthamoeba research
- Endoplasmic Reticulum Stress and Disease
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Head and Neck Anomalies
- Cardiomyopathy and Myosin Studies
- Caveolin-1 and cellular processes
- Amoebic Infections and Treatments
- Pericarditis and Cardiac Tamponade
Azienda Sanitaria Locale Viterbo
2024
Università Cattolica del Sacro Cuore
2011-2018
Agostino Gemelli University Polyclinic
2009-2016
University of the Sacred Heart
2015
Catholic University of America
2009-2012
Neuroscience Institute
2009
<h3>Objectives:</h3> Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G DNA mutation. Most of previous studies have been based on single case/family reports or series few patients. The primary aim this study was characterization large cohort patients secondary revision previously published data. <h3>Methods:</h3> Retrospective, database-based (Nation-wide Italian Collaborative Network Mitochondrial Diseases) and systematic...
Myasthenia gravis (MG) is caused by autoantibodies targeting, in most cases, the acetylcholine receptor (AChR-MG). Different disease subtypes are distinguished on basis of clinical characteristics and thymus pathology. In 40% patients with anti-AChR negative generalized MG, appears to be mediated antibodies against muscle specific kinase (MuSK-MG).1 We evaluated HLA-DRB1*, DQA1*, DQB1* allele profile MuSK-MG comparison a control population non-thymoma early onset AChR-MG (AChR-EOMG). chose...
Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding multisystem syndrome to severe, even isolated, manifestation some patients.To investigate the involvement of peripheral nervous system MDs extensive electrophysiological studies were performed 109 patients with morphological, biochemical and genetic diagnosis MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis stroke-like episodes (MELAS), 16...
In mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a multisystem disorder, gastrointestinal involvement is frequent with dysphagia, chronic diarrhea, anorexia, abdominal pain, delayed gastric emptying, paralytic, often intractable, ileus.1 this article, we report patient dysmotility acute refractory intestinal pseudo-obstruction responsive to prucalopride.
Introduction Poststroke spasticity (PSS) affects up to 40% of patients who had a stroke. Botulinum neurotoxin type A (BoNT-A) has been shown improve spasticity, but the optimal timing its application remains unclear. While several predictors upper limb PSS are known, their utility in clinical practice relation BoNT-A treatment yet be fully elucidated. The COLOSSEO-BoNT study aims investigate and effects on spasticity-related metrics real-world setting. Methods analysis recruitment will...
The paraneoplastic association of dermatomyositis (DM) and underlying breast cancer is well established1,2. This report confirms the diagnostic therapeutic value searching for malignancy in patients with DM3,4. A 33-year-old woman developed subacute severe proximal muscle weakness, dysphagia, respiratory failure, skin lesions on forehead, purplish discoloration around upper eyelid, ulcerating nodules …