A5041956119- Migraine and Headache Studies
- Neurological disorders and treatments
- Sympathectomy and Hyperhidrosis Treatments
- Trigeminal Neuralgia and Treatments
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Radiomics and Machine Learning in Medical Imaging
- Genetics and Neurodevelopmental Disorders
- Acute Ischemic Stroke Management
- Potassium and Related Disorders
- Ophthalmology and Eye Disorders
- Medical Imaging Techniques and Applications
- Neurology and Historical Studies
- Hepatitis C virus research
- Helicobacter pylori-related gastroenterology studies
- Advanced Bandit Algorithms Research
- Congenital Heart Disease Studies
- Genomics and Rare Diseases
- Balance, Gait, and Falls Prevention
- Glycogen Storage Diseases and Myoclonus
- Action Observation and Synchronization
- Cerebral Venous Sinus Thrombosis
- Congenital heart defects research
- Neurological Complications and Syndromes
- Transcranial Magnetic Stimulation Studies
Istituti Clinici Scientifici Maugeri
2020-2023
IRCCS San Camillo Hospital
2012-2018
University of Florence
2013
Azienda Ospedaliera G. Brotzu
2006-2010
Fondazione Stella Maris
2007
University of Pavia
2003-2006
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2005
Hôpital Saint-Vincent-de-Paul
2003
Genethon (France)
2003
Inserm
2003
<b><i>Objectives:</i></b><i>SCN1A</i> mutations were recently reported in several patients with severe myoclonic epilepsy infancy (SMEI). The authors analyzed <i>SCN1A</i> 93 SMEI and made genotype-phenotype correlation to clarify the role of this gene etiology SMEI. <b><i>Methods:</i></b> All fulfilled criteria for all using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, sequenced patient both parents. <b><i>Results:</i></b><i>SCN1A</i>...
<b>Background: </b><i>ARX</i> is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, homeodomain, and conserved C-terminal aristaless domain. Studies in humans have demonstrated remarkable pleiotropy: malformation phenotypes are associated protein truncation mutations missense homeobox; nonmalformation phenotypes, including X-linked infantile spasms (ISS), outside of expansion PolyA tracts. <b>Objective: </b> To investigate...
DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest only 30-40% of mutation carriers. Investigating factors regulating this reduced penetrance might add new insight into mechanisms underlying disease. The pathophysiology has been related basal ganglia dysfunctions that lead most prominent motor symptoms. However, subclinical sensory deficits have also reported, particularly adult-onset focal dystonia....
Identification of reliable and accessible biomarkers to characterize ischemic stroke patients’ prognosis remains a clinical challenge. Neurofilament light chain (NfL) glial fibrillary acidic protein (GFAP) are markers brain injury, detectable in blood by high-sensitive technologies. Our aim was measure serum NfL GFAP after stroke, evaluate their correlation with functional outcome the scores rehabilitation scales at 3-month follow-up. Stroke patients were prospectively enrolled longitudinal...
A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms hypsarrhythmia, microcephaly, severe mental retardation spastic quadriplegia. The pneumoencephalogram performed in sibs agenesis the corpus callosum aqueductal stenosis tri‐ventricular dilatation. disorder did not show progressive course deterioration neurologic functions. No biochemical or cytogenetic defect could be identified. Complement fixation...
Medication-overuse headache (MOH) is one of the forms that most frequently prompts patients to consult a specialist centre. The prevalence this form in general population approximately 1-2%. Around 40% seen at centres present with chronic and 80% make excessive use symptomatic drugs. MOH shows clinical improvement, accompanied by reduction consumption analgesic drugs, if are submitted detoxification therapy. But only first stage long complex course care global approach demands adequate...
SUNCT syndrome (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) is a primary characterised by high frequency of associated marked autonomic periocular signs symptoms. Activation the hypothalamus via superior salivary nucleus probably responsible for some involvement observed during attacks. We describe case unusual features (e.g., mydriasis) early onset. Pupillometric studies were performed both in basal condition (without anisocoria) after...
S722 nd ESTRO Forum
Chronic nephropathic patients often present morphological and functional alterations of the gastro-enteric apparatus. Gastrointestinal diseases represent most common early signs. PPIs presented for many decades an important inhibitory effect on gastric acid secretion: they have a chemical structure, mechanism action are very treating acid-related pathologies, Helicobacter Pylori eradication, preventing curing NSAIDs gastropathies. We prescribe this class drugs to our even after pathology...
Il paziente nefropatico cronico facilmente presenta alterazioni morfologiche e funzionali dell'apparato gastroenterico. I segni più comuni precoci nella sindrome uremica cronica sono rappresentati dai disturbi gastrointestinali. Da alcuni decenni abbiamo a disposizione dei farmaci con potente azione inibente la secrezione acida gastrica: gli inibitori di pompa protonica (IPP) hanno una struttura chimica affine, uno stesso meccanismo d'azione molto importanti per il trattamento delle...
Background. Progressive increase of an aging population in Western countries will result a growth stroke prevalence. As many survivors chronically show severe disability, economic, social, and medical burden could be expected the future. Objective subjective measures poststroke recovery are necessary to obtain predictive information, improve treatments, better allocate resources. Aim. To explore measure temporal dimension recovery, search for association with multiple clinical variables,...