0000000001030710

AUTHOR

R Falsaperla

showing 3 related works from this author

West syndrome: a comprehensive review

2020

AbstractSince its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside…

0301 basic medicinePediatricsmedicine.medical_specialtyNeurologyEtiologymedicine.medical_treatmentDermatologyReview Article03 medical and health sciences0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaGeneticmedicineGeneticsHumansInfantile spasmsbusiness.industryInfantWest SyndromeElectroencephalographyGeneral MedicineInfantile SpasmWest syndromemedicine.diseasePrognosisHypsarrhythmiaPsychiatry and Mental healthEpileptic spasms030104 developmental biologyInfantile spasms syndromeEtiologyEpileptic spasmInfantile spasmNeurology (clinical)Neurosurgerymedicine.symptomEpileptic spasmsbusinessSpasms Infantile030217 neurology & neurosurgeryKetogenic diet
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Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

2016

Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…

0301 basic medicineModerate to severeAdultMalePathologymedicine.medical_specialtyAdolescentDevelopmental DisabilitiesContext (language use)030105 genetics & heredity03 medical and health sciences0302 clinical medicinemedicineHumansAbnormalities MultipleClinical Case ReportClinical phenotypeChildKyphoscoliosisPigmentation disorderHypopigmentationChromosome AberrationsHypopigmentationbusiness.industryMosaicismFollow up studiesTotal bodyGeneral Medicinemedicine.diseaseMagnetic Resonance Imaging6200Musculoskeletal Abnormalitieshypomelanosis Ito type Pigmentary mosaicism mosaic hypopigmentation childrenPhenotypeItalyChild PreschoolKaryotypingFemalemedicine.symptombusinessPigmentation Disorders030217 neurology & neurosurgeryResearch ArticleFollow-Up StudiesMedicine
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Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis

2019

Aim: To identify factors that may predict and affect the risk of relapse in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Method: This was a retrospective study of an Italian cohort of patients with paediatric (≤18y) onset anti-NMDAR encephalitis. Results: Of the 62 children included (39 females; median age at onset 9y 10mo, range 1y 2mo–18y; onset between 2005 and 2018), 21 per cent relapsed (median two total events per relapsing patient, range 2–4). Time to first relapse was median 31.5 months (range 7–89mo). Severity at first relapse was lower than onset (median modified Rankin Scale [mRS] 3, range 2–4, vs median mRS 5, range 3–5; admission to intensive care unit: 0/10 vs 3/10…

Male030506 rehabilitationGastroenterologyCohort Studies0302 clinical medicineRetrospective StudieModified Rankin ScaleRecurrenceRisk FactorsChildrelapseAnti-N-Methyl-D-Aspartate Receptor EncephalitisHazard ratioItalyChild PreschoolCohortanti‐N‐methyl‐D‐aspartate receptor encephalitisFemale0305 other medical scienceEncephalitisHumanCohort studymedicine.medical_specialtyAdolescentSocio-culturaleanti-NMDAR antibodies03 medical and health sciencesanti-NMDARDevelopmental NeuroscienceInternal medicinemedicineAdolescent; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Child; Child Preschool; Cohort Studies; Female; Humans; Infant; Italy; Male; Recurrence; Retrospective Studies; Risk FactorsHumansPreschoolSurvival analysisRetrospective StudiesAutoimmune encephalitisbusiness.industryInfantRetrospective cohort studymedicine.diseaseanti-NMDAR antibodies autoimmune encephalitis anti‐N‐methyl‐D‐aspartate receptor encephalitisautoimmune encephalitisAnti-N-methyl-D-aspartate receptor encephalitis anti-NMDAR autoimmune encephalitis relapseAnti-N-Methyl-D-Aspartate Receptor EncephalitiPediatrics Perinatology and Child HealthNeurology (clinical)Cohort Studiebusiness030217 neurology & neurosurgery
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