A5085164050- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Prenatal Screening and Diagnostics
- Advanced Neuroimaging Techniques and Applications
- Cerebrospinal fluid and hydrocephalus
- Assisted Reproductive Technology and Twin Pregnancy
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Advanced MRI Techniques and Applications
- interferon and immune responses
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Spinal Dysraphism and Malformations
- Systemic Lupus Erythematosus Research
- Cytomegalovirus and herpesvirus research
- Pediatric Urology and Nephrology Studies
- Glioma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Parvovirus B19 Infection Studies
- Congenital Heart Disease Studies
- Hedgehog Signaling Pathway Studies
- Tuberous Sclerosis Complex Research
- Infectious Encephalopathies and Encephalitis
- Genetic and Kidney Cyst Diseases
- Herpesvirus Infections and Treatments
Ospedale dei Bambini Vittore Buzzi
2016-2025
University of Milan
1994-2024
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2019
ASST Fatebenefratelli Sacco
2017-2019
Istituti Clinici di Perfezionamento
2002-2015
Boston Children's Hospital
2005-2015
Azienda Ospedaliera di Desio e Vimercate
2013
Istituti di Ricovero e Cura a Carattere Scientifico
2007
Aziende Socio Sanitarie Territoriale Nord Milano
2003
San Raffaele University of Rome
1991-2001
To assess the diagnostic and prognostic value of fetal cerebral magnetic resonance (MR) imaging congenital cytomegalovirus (CMV) infection in comparison with that level II ultrasonography (US).Institutional review board approval informed consent for MR data collection were obtained. Thirty-eight fetuses CMV infection, examined by using serial US, underwent (mean gestational age, 25 weeks; age range at first examination, 20-34 weeks). The frequency pathologic findings US (29 cases...
To describe changes in umbilical artery (UA) Doppler flow monochorionic diamniotic (MCDA) twins affected by selective intrauterine growth restriction (sIUGR), to correlate findings with pregnancy course and perinatal outcome, report postnatal follow-up.This was a retrospective study of 140 MCDA sIUGR. UA end-diastolic flow, defined as waveform pattern Type I (persistently positive), II absent or persistently reversed) III (intermittently intermittently reversed), recorded at first...
Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in ABCD1 gene. The main phenotypes observed men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral consists of a demyelinating progressive white matter (WM) disease associated rapid clinical decline fatal if left untreated. Hematopoietic stem cell transplantation standard treatment for cALD as it stabilizes WM degeneration...
Abstract Background Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study to achieve consensus on the diagnosis CM1 in children. Methods A multidisciplinary panel formulated 57 provisional statements based review literature. Thirty-four international experts (IE) participated Delphi by independently rating each statement 4-point Likert scale (“strongly disagree,” “disagree,” “agree,” “strongly agree”)....
Abstract The possibility of detecting acute hypoxic‐ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case fetus with vein Galen arteriovenous malformation in whom diffusion‐weighted at 33 weeks gestation clearly detected cerebral ischemic lesions, associated remarkable decrease the average apparent diffusion coefficient, whereas T2‐weighted was still not informative.
<h3>BACKGROUND AND PURPOSE:</h3> Different and specific MR imaging patterns of lesions involving WM are widely defined in neonatal encephalopathy. The aim this study was to describe a novel pattern damage characterized by the abnormal prominence DMVs premature full-term neonates. <h3>MATERIALS METHODS:</h3> Twenty-one (11 10 full-term) neonates with evidence linear radially oriented fan-shaped periventricular without dural venous thrombosis were enrolled retrospective study. A total 37...
<b><i>Objective:</i></b> To report the incidence of fetal and maternal complications after selective fetoscopic laser surgery for twin-to-twin transfusion syndrome (TTTS). <b><i>Methods:</i></b> A total 150 cases TTTS were treated from January 2004 to June 2009 (period 1, 2004–2006, 62 cases; period 2, 2007 2009, 88 cases). Fetal (double single intrauterine death, recurrence TTTS, twin anemia-polycythemia sequence (TAPS), reversal cerebral...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1) have been associated with an AGS phenotype. Next Generation Sequencing (NGS) analysis was performed on 51 patients interferon signature (IS) investigated in 18 31 healthy controls. NGS identified mutations 48...
Limited information is available about the development of focal cortical gyration anomalies in human brain. Using prenatal MRI, we characterized at an early formative stage and sought clues mechanisms their development.From a large MRI database, 30 cases (gestational age, ≤ 24 weeks) with reported distortion rim profile were selected. Eight matched histologic examinations; another seven had autopsy, or postnatal follow-up; 15 no follow-up but did present analogous abnormal features. Focal...
ABSTRACT Objective Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There a general trend to perform fetal magnetic resonance imaging (MRI) when VM severe (greater than 15 mm) and/or it not isolated. The role of MRI debated borderline (between 10 and mm ) Some authors have subdivided into mild (10 12 moderate (>12 to15 mm). aim study was evaluate MR protocol cases characterized by isolated no risk factors. Method As retrospective study, 179...
Purpose To describe and classify the range of brain injuries present at prenatal, in-utero magnetic resonance (MR) imaging in co-twin survivors monochorionic (MC) twin pregnancies complicated by single intrauterine death (SIUD). Materials Methods This retrospective, observational study from six tertiary fetal medicine centers that perform tertiary-level prenatal MR studies reviewed cases which had shown a injury surviving pregnancy with MC component SIUD. Results Forty-two twins were...
<h3>SUMMARY:</h3> Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by infantile-onset disorder, frequently arising from heterozygous mutations in the <i>SLC2A1</i> gene. Individuals with GLUT1-DS may present early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined unilateral paresis...
Abstract Monochorionic twin pregnancies complicated by the death of one are associated with substantial morbidity in survivor, a high risk developing hypoxic‐ischemic brain damage. In this report, we demonstrate how prenatal diffusion‐weighted magnetic resonance imaging detected focal ischemic lesions survivor monochorionic pregnancy within 1–2 days cotwin death. A very early diagnosis cerebral might influence management pregnancy. Copyright © 2007 ISUOG. Published John Wiley & Sons, Ltd.
Evaluation of biometry is a fundamental step in prenatal brain MR imaging. While different studies have reported reference centiles for imaging biometric data fetuses the late second and third trimesters gestation, no one has them early trimester. We report normal linear large cohort fetal brains within 24 weeks gestation.From bases 2 referral centers medicine, accounting 3850 examinations, we retrospectively collected 169 examinations singleton pregnancies, between 20 gestational age, with...