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Comar M.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Comar M.,University of Trieste | Delbue S.,University of Milan | Zanotta N.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 7 more authors.
Pediatric Blood and Cancer | Year: 2014

Background: Multipotent stromal cells are present in the Wharton's jelly matrix (WJSC) of the umbilical cord and can be used as an allogeneic source of cells to treat immunological disorders. Recently it was demonstrated that adult bone marrow (BM)-derived mesenchimal stromal cells (MSC) are susceptible to infection with viruses showing potential oncogenic properties, such as the polyomavirus JC (JCV). The aim of this study was to investigate the presence of human polyomaviruses (JCV, BK Virus-BKV, SV40, and Merkel cell polyomavirus-MCPyV) in WJSC, and explore the risk of infection. Procedure: MSC samples from 35 umbilical cords were investigated by quantitative Real Time PCRs for the presence of DNA sequences of JCV, BKV, SV40, and MCPyV. Results: JCV DNA was detected in 1/35 (2.8%) of MSC samples, while SV40 DNA was found in 3/35 (8.6%) of the examined samples. None of the samples showed sequences of BKV and MCPyV. Conclusions: The present study demonstrates the in vivo ability of polyomaviruses to infect WJSC. Since the therapeutic approach with the WJSC has high potentiality and a more intensive use can be easily hypothesized, the need to develop consensus guidelines to detect rare viral infections in MSC is pressing. © 2014 Wiley Periodicals, Inc.


Marcuzzi A.,University of Trieste | Tommasini A.,University of Trieste | Tommasini A.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Crovella S.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 2 more authors.
International Immunopharmacology | Year: 2010

The inhibition of mevalonate pathway through genetic defects (mevalonate kinase deficiency, MKD) or pharmacologic drugs (aminobisphosphonates) causes a shortage of intermediate compounds and, in particular, of geranylgeranyl-pyrophosphate (GGPP) associated to the activation of caspase-1 and IL-1β release. Geraniol (GOH), farnesol (FOH), geranylgeraniol (GGOH) and menthol (MOH), due to their isoprenoid structure, are supposed to enter the mevalonate pathway and to by-pass the biochemical block, reconstituting the pathway. Considering the already known side effects of aminobisphosphonates, and the lack of a specific treatment for MKD, we evaluated the impact of these natural isoprenoids compounds in a RAW cell lines chemically treated with the aminobisphosphonate alendronate, and in monocytes isolated from 2 patients affected by MKD. GOH, FOH, GGOH and MOH were all capable to diminish inflammatory marker levels induced by LPS. These natural isoprenoids could be proposed as novel therapeutic approach for the still orphan drug MKD, but also considered for the evaluation of possible inflammatory side effects of aminobisphosphonates. © 2010 Elsevier B.V. All rights reserved.


Pontillo A.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Brandao L.A.,Federal University of Pernambuco | Guimaraes R.L.,Federal University of Pernambuco | Segat L.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
Journal of Acquired Immune Deficiency Syndromes | Year: 2010

Objectives: Innate immunity genes polymorphisms are known to be involved in the multifactorial susceptibility to HIV-1 infection. Recently it has been hypothesized that inflammasomes could play an important role in the host response to viruses. The aim of our study is to verify if single-nucleotide polymorphisms (SNPs) in genes encoding for NALPs-innate immune receptors that form molecular complexes leading to the production of IL-1beta and the activation of immune response-could influence the individual susceptibility to HIV-1. Design: We performed an association study analyzing 2 NLRP1 and NLRP3 SNPs in HIV-1 vertically infected Brazilian children (n = 135), HIV-1-infected Brazilain adults (n = 192) and HIV-1-positive Italian seropositive subjects (n = 192). Results: The 3UTR NLRP3 rs10754558 SNP was associated with HIV-1 infection in all the studied groups. The frequency of rs10754558 G allele was differently distributed within seropositive subjects (HIV+) and controls, and in particular the GG genotype was less frequent in HIV+. Conclusions: susceptibility to HIV-1 infection is associated with a 3UTR NLRP3 polymorphism. This is the first report linking SNPs in the NALPs with HIV-1 infection, and further epidemiologic and functional studies are needed to deeper investigate the role of inflammasome in the susceptibility to HIV-1 infection. Copyright © 2010 by Lippincott Williams & Wilkins.


Calligaris L.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Longo G.,University of Trieste | Badina L.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Berti I.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Barbi E.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste
Endocrine, Metabolic and Immune Disorders - Drug Targets | Year: 2014

Food allergy is the primary cause of anaphylaxis in paediatric age affecting roughly 4% of children and their families worldwide, and requiring changes in dietary habits. The prognosis for food allergy in children has traditionally been regarded as good for the most frequent allergens, however the prognosis for cow's milk allergy in the pediatric age is currently considered to be worse than previously believed. There is now enough evidence that measures of avoidance for children at risk did not have any preventive effect whatsoever, but they still came to be counterproductive by avoiding the physiological interaction between food allergens and gastrointestinal mucosal immune system. Programs of specific oral tolerance induction (SOTI) have obtained interesting results in the treatment of food allergy supporting the idea that antigen exposure through gastrointestinal section is important to allow the development of tolerance. Nevertheless this approach is not yet considered "ready" for community recommendations. In this paper we describe our experience in the field of SOTI in children with cow's milk allergy. © 2014 Bentham Science Publishers.


Faletra F.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | D'Adamo A.P.,University of Trieste | Bruno I.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Athanasakis E.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. © 2013 Wiley Periodicals, Inc.


PubMed | Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2013

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: 1, 2, and 3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis.


PubMed | Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste, University of Pisa, University of Trieste and University of Ferrara
Type: Journal Article | Journal: PloS one | Year: 2014

Asbestos-induced mesothelial inflammatory processes are thought to be the basic mechanisms underlying Malignant Mesothelioma (MM) development. Detection of MM often occurs at late stage due to the long and unpredictable latent period and the low incidence in asbestos exposed individuals. The aim of this study was to investigate early immunological biomarkers to characterize the prognostic profile of a possible asbestos-induced disease, in subjects from a MM hyperendemic area.The Luminex Multiplex Panel Technology was used for the simultaneous measurement of serum levels of a large panel of 47 analytes, including cytokines and growth factors, from workers previously exposed to asbestos (Asb-workers), asbestos-induced MM patients and healthy subjects. In addition, to explore the influence on serum cytokines profile exerted by SV40 infection, a cofactor in MM development, a quantitative real time PCR was performed for sequences detection in the N-terminal and intronic regions of the SV40 Tag gene. Statistical analysis was done by means of the Mann-Whitney test and the Kruskall-Wallis test for variance analysis.A variety of 25 cytokines linked to pulmonary inflammation and tumor development were found significantly associated with Asb-workers and MM patients compared with healthy controls. A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in MM patients: IL-12(p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p<0.001). Notably, the chemokine RANTES measured the highest serum level showing an increased gradient of concentration from healthy subjects to Asb-workers and MM patients (p<0.001), independently of SV40 infection.This study shows that, in subjects from an hyperendemic area for MM, the C-C chemokine RANTES is associated with the exposure to asbestos fibres. If validated in larger samples, this factor could have the potential to be a critical biomarker for MM prognosis as recently reported for breast tumor.


PubMed | Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste and Copenhagen University
Type: Journal Article | Journal: Immunity, inflammation and disease | Year: 2015

Midline 1 (MID1) is a microtubule-associated ubiquitin ligase that regulates protein phosphatase 2A levels. Loss-of-function mutations in MID1 lead to the human X-linked Opitz G/BBB (OS) syndrome characterized by defective midline development during embryogenesis. We have recently shown that MID1 is strongly up-regulated in murine cytotoxic T lymphocytes (CTLs), and that it has a significant impact on exocytosis of lytic granules and the killing capacity of CTLs. The aims of the present study were to determine the localization of MID1 in migrating CTLs, and to investigate whether MID1 affects CTL polarization and migration. We found that MID1 mainly localizes to the uropod of migrating CTLs and that it has a substantial impact on CTL polarization and migration in vitro. Furthermore, analysis of contact hypersensitivity responses supported that MID1 controls effector functions of CTLs in hapten-challenged skin in vivo. These results provide significant new knowledge on the role of MID1 in CTL biology.


PubMed | Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste, Sanatorio Triestino and University of Trieste
Type: Journal Article | Journal: Psychiatry research | Year: 2015

In this study we explored the possible association between 36,915 functional variants and alexithymia, a personality trait characterized by the inability to identify and describe emotions and feelings. From our analysis, variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype.


PubMed | Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste
Type: Evaluation Studies | Journal: Archives of disease in childhood. Fetal and neonatal edition | Year: 2015

This study evaluates the effect of varying nasal continuous positive airway pressure (NCPAP) level on cerebral blood flow (CBF) and oxygenation in preterm infants.Oxy-haemoglobin (HbO2) and total haemoglobin (HbTot), as CBF estimates, and the ratio between HbO2 and HbTot (HbO2/HbTot), as cerebral oxygenation estimate, were assessed by near-infrared spectroscopy in 26 stable preterm newborns at a postmenstrual age between 26 and 33weeks. Baseline HbO2, HbTot and HbO2/HbTot values were initially collected with NCPAP at 5cmH2O and then compared with values obtained with NCPAP levels at both 3 and 8cmH2O.Compared with 5cmH2O, cerebral HbO2, HbTot and HbO2/HbTot remained unchanged both after increasing (to 8cm H2O) and decreasing (to 3cmH2O) the NCPAP level. This result was observed both in regional areas (24 sites) and in the overall monitored area (frontal and parietal cortex). Compared with 8cmH2O, peripheral oxygen saturation significantly decreased at 3cmH2O (p=0.021). Heart rate did not change.No differences in CBF and cerebral oxygenation were observed with NCPAP levels in the range 3-8cmH2O despite a decrease in peripheral oxygenation with 3cmH2O.

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