0000000000639399

AUTHOR

Siciliano Gabriele

showing 2 related works from this author

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

2022

ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type,SMN2copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0…

Settore MED/39 - NEUROPSICHIATRIA INFANTILESettore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVEspinal muscular atrophy; smaepidemiologySettore MED/26 - NeurologiaNeurology (clinical)Spinal muscular atrophy (SMA) disease modifying therapies SMN1 SMN2 prevalenceITALIAN REGISTRYsmaSettore MED/42 - IGIENE GENERALE E APPLICATAPREVALENCEspinal muscular atrophyNeurology
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Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

2019

ObjectivesA few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response.MethodsWe applied a set of diagnostic criteria to 460 patients included in a database of Italian patients with CIDP. Clinical characteristics and treatment response were reviewed for each patient. The Kaplan-Meier curve was used to estimate the progression rate from atypical to typical CIDP.ResultsAt the time of inclusion, 376 (82%) patients had a diagnosis of typical CIDP while 84 …

AdultMaleTreatment responselewis-sumner syndromeAdolescentDatabases FactualDisease durationchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndrome; Surgery; Neurology (clinical); Psychiatry and Mental HealthKaplan-Meier EstimateCIDPcomputer.software_genreDisease courseYoung Adultlewis–sumner syndrome03 medical and health sciences0302 clinical medicineHumansMedicineIn patientChildAgedRetrospective StudiesAged 80 and overchronic inflammatory demyelinating polyradiculoneuropathyRetrospective reviewdistal acquired demyelinating symmetric neuropathyDatabasebusiness.industryPolyradiculoneuropathyMiddle Agedchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndromemedicine.diseasePsychiatry and Mental healthchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndrome; surgery; neurology ; psychiatry and mental healthItalyPolyradiculoneuropathy Chronic Inflammatory Demyelinatingdiagnostic criteriaDisease ProgressionFemaleSettore MED/26 - NeurologiaSurgeryProgression rateNeurology (clinical)CIDP; chronic inflammatory demyelinating polyradiculoneuropathy; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis–sumner syndromebusinesscomputer030217 neurology & neurosurgeryJournal of Neurology, Neurosurgery & Psychiatry
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