0000000001227797

AUTHOR

Francesca Madia

showing 3 related works from this author

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

GAMMA-2-SUBUNITMaleFebrile convulsionsDNA Mutational Analysismedicine.disease_causePolymerase Chain ReactionSodium ChannelsFebrileEpilepsyExonPLUSDNA Mutational AnalysisGene duplicationChildIndex caseChromatography High Pressure LiquidGeneticsChromatographyMutationIdiopathic epilepsyExonsNeurologyIon channelsHigh Pressure LiquidFemaleGeneralized epilepsy with febrile seizures plusMutationsAdultAdolescentGENERALIZED EPILEPSYNerve Tissue ProteinsSeizures FebrileSeizuresGeneticsmedicineHumansFamilybusiness.industryCONVULSIONSGene AmplificationSODIUM-CHANNELmedicine.diseaseGENEDYSFUNCTIONNAV1.1 Voltage-Gated Sodium ChannelFebrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations; Adolescent; Adult; Child; Chromatography High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Gene Amplification; Humans; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Polymerase Chain Reaction; Seizures Febrile; Sodium Channels; FamilyMutationMyoclonic epilepsyNeurology (clinical)businessEpilepsia
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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

2006

Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …

ProbandMaleGenetic LinkagePenetranceEpilepsyModelsgeneticsTomographyFamilial hemiplegic migraineGeneticsNeurologic ExaminationBrainChromosome MappingElectroencephalographyPenetranceMagnetic Resonance Imagingstatistics /&/ numerical dataPedigreeX-Ray ComputedNeurologyFemaleHumanmedicine.medical_specialtyBenign NeonatalBrain; pathology/radiography Chromosome Mapping Chromosomes; Human; Pair 16; genetics Chromosomes; Pair 19; genetics Electroencephalography; statistics /&/ numerical data Epilepsy; Benign Neonatal; diagnosis/genetics Family Female Genetic Heterogeneity Genetic Linkage Haplotypes Humans Magnetic Resonance Imaging Male Models; Genetic Mutation; genetics Neurologic Examination Pedigree Penetrance Tomography; X-Ray Computedpathology/radiographyChromosomesGenetic HeterogeneityGeneticGenetic linkageFebrile seizureGenetic modelmedicineHumansFamilyPsychiatryEpilepsyModels GeneticPair 19Genetic heterogeneitybusiness.industryPair 16medicine.diseaseEpilepsy Benign NeonatalHaplotypesMutationNeurology (clinical)Tomography X-Ray ComputedbusinessChromosomes Human Pair 19Chromosomes Human Pair 16diagnosis/genetics
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Economic Consequences of Investing in Anti-HCV Antiviral Treatment from the Italian NHS Perspective: A Real-World-Based Analysis of PITER Data

2019

OBJECTIVE:\ud We estimated the cost consequence of Italian National Health System (NHS) investment in direct-acting antiviral (DAA) therapy according to hepatitis C virus (HCV) treatment access policies in Italy.\ud \ud METHODS:\ud A multistate, 20-year time horizon Markov model of HCV liver disease progression was developed. Fibrosis stage, age and genotype distributions were derived from the Italian Platform for the Study of Viral Hepatitis Therapies (PITER) cohort. The treatment efficacy, disease progression probabilities and direct costs in each health state were obtained from the literature. The break-even point in time (BPT) was defined as the period of time required for the cumulativ…

Liver CirrhosisPediatricsTime FactorsSettore MED/09 - Medicina InternaNational Health ProgramsERADICATIONOUTBREAKantiviral treatment anti HCV economic consequencesHepacivirusLIVER FIBROSISSeverity of Illness IndexHealth Services AccessibilityCOST-EFFECTIVENESSIndirect costs0302 clinical medicineEpidemiologyvirus infection030212 general & internal medicinehealth care economics and organizationscost effectiveness030503 health policy & servicesHealth PolicyHealth services researchhealthHepatitis CHepatitis CMarkov Chainschronic hepatitis C virus infection fibrosis progression cost effectiveness liver fibrosisItalyPharmacology; Health Policy; Public Health Environmental and Occupational HealthCohortSettore SECS-P/03 - Scienza delle FinanzeDisease ProgressionPublic Health0305 other medical scienceViral hepatitisAnti-HCV antiviral treatmentCHRONIC HEPATITIS-Cmedicine.medical_specialtyGenotypeSettore MED/12 - GASTROENTEROLOGIAVIRUS-INFECTIONAntiviral AgentsNO03 medical and health sciencesCost SavingsAntiviral Agents; Cost Savings; Disease Progression; Genotype; Health Policy; Health Services Accessibility; Hepacivirus; Hepatitis C; Humans; Italy; Liver Cirrhosis; Markov Chains; National Health Programs; Severity of Illness Index; Time FactorsmedicineMANAGEMENTHumanschronic hepatitis CINDUCED DISEASESMETAANALYSISPharmacologyHealth economicsbusiness.industryPublic healthEnvironmental and Occupational HealthPublic Health Environmental and Occupational Healthmedicine.diseaseFIBROSIS PROGRESSIONbusiness
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