0000000000241577

AUTHOR

Lorenzo Pinelli

showing 2 related works from this author

Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.

2021

Objective: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. Method: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonogra…

medicine.medical_specialtyCentral nervous system; Fetal magnetic resonance imaging; Fetal ultrasound; MRI; Neurosonography; Prenatal diagnosis; VentriculomegalyPrenatal diagnosicentral nervous system; fetal magnetic resonance imaging; fetal ultrasound; MRI; neurosonography; prenatal diagnosis; ventriculomegalyPrenatal diagnosisPrenatal diagnosisUltrasonography PrenatalNOCohort StudiesLesionCentral nervous system Fetal magnetic resonance imaging Fetal ultrasound MRI Neurosonography Prenatal diagnosis VentriculomegalyFetusPregnancyHumansMedicinefetal magnetic resonance imagingventriculomegaly central nervous system fetal magnetic resonance imaging MRI fetal ultrasound neurosonography prenatal diagnosisventriculomegalyRetrospective StudiesFetusprenatal diagnosismedicine.diagnostic_testbusiness.industryUltrasoundObstetrics and GynecologyGestational ageMagnetic resonance imagingmedicine.diseasecentral nervous systemMagnetic Resonance ImagingFetal ultrasoundneurosonographyNeurosonographyFetal magnetic resonance imagingReproductive Medicinefetal ultrasoundSettore MED/40Central nervous systemVentriculomegalyGestationFemaleRadiologymedicine.symptombusinessHydrocephalusVentriculomegalyMRI
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Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

2021

Type I Interferonopathies comprise inherited inflammatory diseases associated with perturbation of the type I IFN response. Use of Janus kinase (JAK) inhibitors has been recently reported as possible tools for treating some of those rare diseases. We describe herein the clinical picture and treatment response to the JAK-inhibitor ruxolitinib in a 5-year-old girl affected by Aicardi-Goutières Syndrome type 6 (AGS6) due to ADAR1 mutation. The girl's interferon score (IS) was compared with that of her older brother, suffering from the same disorder, who was not treated. We observed a limited, but distinct neurological improvement (Gross Motor Function and Griffiths Mental Development Scales). …

Mental developmentRuxolitinibMutationTreatment responseAicardi-Goutières syndrome; JAK-inhibitor; interferonopathies; ruxolitinib; type I interferonbusiness.industryOlder brotherruxolitinibJAK-inhibitorCase ReportAicardi-Goutières syndromemedicine.diseasemedicine.disease_causePediatricsRJ1-570interferonopathiesInterferonImmunologyPediatrics Perinatology and Child HealthmedicineAicardi–Goutières syndrometype I interferonJanus kinasebusinessmedicine.drugFrontiers in Pediatrics
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