Search Results - "Doneda, Chiara"
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Fetal thick corpus callosum: new insights from neuroimaging and neuropathology in two cases and literature review
Published in Neuroradiology (01-12-2021)“…Purpose To describe the correlation between fetal imaging (in vivo and ex vivo) and neuropathology in two fetuses at early gestational age (GA) with isolated…”
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Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Published in European journal of paediatric neurology (01-09-2020)“…ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic…”
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Early cerebral lesions in cytomegalovirus infection: prenatal MR imaging
Published in Radiology (01-05-2010)“…To assess the diagnostic and prognostic value of fetal cerebral magnetic resonance (MR) imaging of congenital cytomegalovirus (CMV) infection in comparison…”
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Cerebellar dysplasia related to PIK3CA mutation: a three-case series
Published in Neurogenetics (01-03-2021)“…The term PROS ( PIK3CA -Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA…”
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Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia
Published in Prenatal diagnosis (01-10-2014)“…ABSTRACT Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50–70% of HCH patients have a mutation in…”
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Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents
Published in Brain & development (Tokyo. 1979) (01-09-2014)“…Abstract Background: Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with oculomotor…”
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Spontaneous regression of an epidermoid cyst in a pediatric patient—Case report and review of the literature
Published in Child's nervous system (01-06-2024)“…Epidermoid cysts are infrequent, benign, slow-growing, space-occupying lesions that account for 0.5–1.8% of primary intracranial tumors. We report the case of…”
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Cutting-edge applications of fetal MR neuro-imaging in clinical routine: a pictorial essay
Published in Neuroradiology (01-12-2023)“…Over time, fetal MR neuro-imaging has undergone continuous improvement; presently, it plays a pivotal role in the diagnosis of an expanding array of complex…”
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Brain abscess in pediatric age: a review
Published in Child's nervous system (01-07-2019)“…Objective The purpose of the paper is to examine the current state of the art about epidemiology, diagnosis, and treatment of this infection. Methods A review…”
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Magnetic resonance imaging of intracranial anomalies in pregnancies complicated by twin anemia-polycythemia sequence
Published in Neuroradiology (01-07-2024)“…Purpose To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin…”
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Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome
Published in Pediatric neurology (01-08-2024)“…Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the…”
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Intrauterine fetal MR versus postmortem MR imaging after therapeutic termination of pregnancy: evaluation of the concordance in the detection of brain abnormalities at early gestational stage
Published in European radiology (01-06-2019)“…Background and purpose Fetal postmortem MR Imaging (pmMRI) has been recently used as an adjuvant tool to conventional brain autopsy after termination of…”
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Radiomics and artificial intelligence applications in pediatric brain tumors
Published in World journal of pediatrics : WJP (01-08-2024)“…Background The study of central nervous system (CNS) tumors is particularly relevant in the pediatric population because of their relatively high frequency in…”
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Severe Fetal Symptomatic Infection from Human Cytomegalovirus following Nonprimary Maternal Infection: Report of Two Cases
Published in Fetal diagnosis and therapy (01-04-2022)“…Human cytomegalovirus (HCMV) is the most common congenital infection, especially severe after a maternal primary infection; sequelae in neonates born to…”
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FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Published in Neurological sciences (01-09-2023)“…Background and aims Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of…”
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Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study
Published in Radiology (01-08-2018)“…Purpose To describe and classify the range of brain injuries present at prenatal, in-utero magnetic resonance (MR) imaging in co-twin survivors of…”
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Congenital Cytomegalovirus Infection With Isolated “Minor” Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome
Published in Pediatric neurology (01-06-2024)“…The prognostic relevance of fetal/early postnatal magnetic resonance (MR) imaging (MRI) isolated “minor” lesions in congenital cytomegalovirus (CMV) infection…”
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Single-Shot Version of FLAIR Sequence in the Detection of Intraventricular Anomalies: Preliminary Experience in Fetal MR Imaging
Published in Journal of computer assisted tomography (01-05-2018)“…To evaluate single-shot (ss) FLAIR sequence in the detection of intraventricular anomalies in a series of fetuses showing mild-moderate ventriculomegaly at…”
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Prenatal MR imaging features of isolated cerebellar haemorrhagic lesions
Published in European radiology (01-08-2016)“…Objective Prenatal features of isolated cerebellar haemorrhagic lesions have not been sufficiently characterised. We aimed to better define their MR imaging…”
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Is fetal magnetic resonance imaging indicated when ultrasound isolated mild ventriculomegaly is present in pregnancies with no risk factors?
Published in Prenatal diagnosis (01-08-2012)“…ABSTRACT Objective Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal…”
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