A5077309684- Connective tissue disorders research
- Neonatal Respiratory Health Research
- Prenatal Screening and Diagnostics
- Bone health and treatments
- Neonatal and fetal brain pathology
- Congenital Anomalies and Fetal Surgery
- S100 Proteins and Annexins
- Congenital Diaphragmatic Hernia Studies
- Fetal and Pediatric Neurological Disorders
- Craniofacial Disorders and Treatments
- Pregnancy and preeclampsia studies
- Congenital limb and hand anomalies
- Neurogenetic and Muscular Disorders Research
- Cleft Lip and Palate Research
- Traumatic Brain Injury and Neurovascular Disturbances
- Hedgehog Signaling Pathway Studies
- Cancer, Hypoxia, and Metabolism
- Dermatological and Skeletal Disorders
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Cancer Diagnosis and Treatment
- Medical Imaging and Pathology Studies
- Cardiovascular Issues in Pregnancy
- Birth, Development, and Health
- RNA modifications and cancer
Ente Ospedaliero Ospedali Galliera
2011-2025
Istituti di Ricovero e Cura a Carattere Scientifico
1990-2017
Istituto Giannina Gaslini
1991-2006
University of Genoa
1991-2002
Ospedale Santa Corona
1996
University of Pavia
1985
Mesenchymal stromal cells are multipotent considered to be of great promise for use in regenerative medicine. However, the cell dose may a critical factor many clinical conditions and yield resulting from ex vivo expansion mesenchymal derived bone marrow insufficient. Thus, alternative sources need explored. In this study, were successfully isolated second trimester amniotic fluid analyzed chromosomal stability validate their safety potential utilization as therapy product.Mesenchymal...
The term S100 refers to members of a multigenic family calcium-modulated proteins, mostly low molecular mass (∼10 000 Da), first identified as protein fraction detectable in the brain and called because its solubility solution 100 g/L ammonium sulfate (1). seems be most abundant glial cells, although presence neuronal subpopulations has also been reported (2)(3). The biological role this within cell populations that contain it not completely elucidated. possibility an extracellular for...
To assess the effects of maternal and intra-amniotic hyperimmunoglobulin (HIG) infusions among cytomegalovirus (CMV) infected fetuses with ultrasound abnormalities following a primary CMV infection.The subjects were CMV-associated cerebral other abnormalities. Three mothers treated HIG during pregnancy two untreated. Fetal ventricle size, organ echodensity placental thickness measured by before after infusions. The children evaluated between 3 7 years age.The ventriculomegaly all three...
Intraventricular hemorrhage (IVH) is the most common form of cerebral in preterm infants, affecting ∼15–20% (1). Despite accurate postnatal monitoring, IVH difficult to diagnose during first 72 h after birth because at this stage, clinical symptoms and radiologic assessment brain damage may still be silent (2). The availability these patients quantitative indicators suggesting subclinical lesions a time when monitoring are unable detect bleeding therefore important. Furthermore,...
Objective Hypoxic-ischemic encephalopathy (HIE) is one of the major causes perinatal mortality and morbidity. To date, there are no reliable methods to detect which infants will develop brain damage after asphyxia insult. Design Setting Prospective study conducted in three tertiary departments neonatology from December 1999 July 2002. Participants A total 44 with 68 control infants. Intervention Routine laboratory variables, neurologic patterns, ultrasound imaging, urine concentrations S100B...
S100B is an acidic calcium-binding protein of the EF-hand family concentrated in nervous system, where it located mainly glial cells (1). Although many hypotheses have been formulated, its biological role still debated, but appearance fluids has shown to be a reliable index brain distress (2). We investigated relationship between concentrations cord blood and gestational age third trimester pregnancy normal preterm term deliveries. We 58 women with consecutive singleton physiological...
<h3>Background</h3> Perinatal asphyxia is a major cause of mortality and morbidity. To date there are no reliable methods to detect which infants will develop brain damage after insult. We investigated whether measurements urine levels S100B in asphyxiated full-term newborns may be useful tool for early detection postasphyxia damage. <h3>Methods</h3> A prospective study 38 with perinatal 96 control subjects, recruited at 3 tertiary departments neonatology between April 1, 1999, July 31,...
Abstract Objectives We present an observational study of 12 cases anomalies the umbilical and portal vein systems associated with absence ductus venosus (DV) diagnosed over past 5 years. The hemodynamic implications each pattern umbilico‐portal system DV have been investigated, as well frequency types their embryological origin. Methods In all ultrasound, color Doppler, cytogenetic investigations were performed. Results Four main patterns abnormal venous circulation documented: (1) (UV)...
Intrauterine growth retardation is one of the major causes perinatal mortality and morbidity. To date, there are no reliable methods to detect brain damage in these patients.We conducted a case-control study tertiary NICUs from December 2001 2003 with 42 intrauterine infants 84 controls. Routine laboratory variables, neurologic outcome at 7-day follow-up, ultrasound imaging, urine concentrations S100B protein were determined 5 time points. Urine levels measured by an immunoluminometric assay...
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 11 families (82 %). We sequenced 313 JS probands and identified mutations 28 (8.9 %), most with pure JS. Only 2 out 17 patients (11.7 %) were mutated. A comparison vs. non-mutated showed that preaxial mesoaxial polydactyly, hypothalamic hamartoma other congenital defects may predict mutations, while tongue hamartomas are more common...
ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare and severe complication of monochorionic twins, occurring in approximately 1 35 000 pregnancies. It characterized by the presence severely abnormal, nonviable acardiac twin structurally normal pump twin, which sustains circulation both fetuses through abnormal vascular placental anastomoses. This pictorial essay aims to illustrate sonographic Doppler findings associated with TRAP sequence, emphasizing diagnostic prenatal...
Abstract Between May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at First Department Obstetrics Gynaecology,‘L. Mangiagalli’ University Milan Gynaecology ‘Gaslini’ hospital in Genoa. A total number often abnormal fetal karyotypes diagnosed. In addition, one case pseudomosaicism (not confirmed on blood) osteogenesis imperfecta type II (observed ultrasound examination) also detected. Eleven pregnancies therefore terminated because an fetus....
Abstract Background: Intrauterine growth restriction (IUGR) is associated with perinatal mortality and neurologic damage from intraventricular hemorrhage (IVH). We investigated whether S100B, a neural protein found in high concentrations after cell injury the nervous system, increased serum of women whose pregnancies are complicated by IUGR newborns develop IVH. also explored prognostic accuracy maternal S100B for IVH newborn. Methods: conducted case–control study 106 IUGR, including...
Perinatal infections such as bacterial meningitis (BM) are one of the major factors associated with perinatal brain damage (1)(2)(3)(4). Despite accurate monitoring, early stages crucial because may occur at a subclinical stage when ultrasound assessment is still silent (5)(6). Laboratory based on chemical analysis cerebrospinal fluid (CSF) and detection bacteria, possibility detecting cases risk to date limited. The measurement constituents able diagnose lesions this could therefore be...
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap Marfan syndrome, disease, that caused by mutations transforming growth factor beta-receptor 1 (TGFBR1) or 2 (TGFBR2) genes, presents many distinctive features particularly aggressive cardiovascular course. We describe prenatal identification of an aortic root aneurysm fetus 19 week...
The purpose of this pictorial essay is to report on the application OmniView (GE Healthcare, Zipf, Austria), new 3-dimensional sonographic software, and its in prenatal study fetal hard soft palates. We will show that novel technique easy feasible, requires a limited learning curve, provides correct volume interrogation region interest. algorithm may be useful training programs, data sets can interpreted by experts remote sites. Future prospective studies with consecutive patients necessary...