Childrens Hospital Bambino Gesu

Rome, Italy

Childrens Hospital Bambino Gesu

Rome, Italy
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Varvara P.,Childrens Hospital Bambino Gesu | Varvara P.,Maria Santissima Assunta Free University | Varuzza C.,Childrens Hospital Bambino Gesu | Sorrentino A.C.P.,Childrens Hospital Bambino Gesu | And 2 more authors.
Frontiers in Human Neuroscience | Year: 2014

The present study was aimed at investigating different aspects of Executive Functions (EF) in children with Developmental Dyslexia (DD). A neuropsychological battery tapping verbal fluency, spoonerism, attention, verbal shifting, short-term and working memory was used to assess 60 children with DD and 65 with typical reading (TR) abilities. Compared to their controls, children with DD showed deficits in several EF domains such as verbal categorical and phonological fluency, visual-spatial and auditory attention, spoonerism, verbal and visual short-term memory, and verbal working memory. Moreover, exploring predictive relationships between EF measures and reading, we found that spoonerism abilities better explained word and non-word reading deficits. Although to a lesser extent, auditory and visual-spatial attention also explained the increased percentage of variance related to reading deficit. EF deficits found in DD are interpreted as an expression of a deficient functioning of the Central Executive System and are discussed in the context of the recent temporal sampling theory. © 2014 Varvara, Varuzza, Sorrentino, Vicari and Menghini.


Doria M.,Childrens Hospital Bambino Gesu
Current HIV Research | Year: 2011

The regulatory Nef protein of HIV-1/2 and SIV is required for high viral replication and disease progression, thus represents a very attractive therapeutic target. Because of the multi-functional nature of the Nef protein, it is unclear which of the several Nef activities are most crucial in vivo for the outcome of viral infection. Some findings indicate that the CD4 down-regulation activity of Nef is critical for viral infectivity as well as for progression to immunodeficiency. On the other hand, more recent evidences suggest that CD4 targeting and stimulation of infectivity are two separate functions of Nef. This controversial issue will be discussed here in the light of the latest findings. © 2011 Bentham Science Publishers.


Fierabracci A.,Childrens Hospital Bambino Gesu
International Journal of Molecular Sciences | Year: 2016

Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for this rare syndrome is reported in Finland and Scandinavia (Norway), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) cohorts of patients are also detected in continental Italy and Sardinia, among Iranian Jews, as well as in other countries. The syndrome is diagnosed when patients present at least two out of the three fundamental disorders including chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison’s disease. Among the associated conditions insulin-dependent diabetes mellitus (Type 1 diabetes) has been rarely reported in different series of patients and occurring more frequently in Finnish APECED patients. In this review, we analyze the incidence of Type 1 diabetes as a clinical manifestation of APECED in different populations highlighting the peculiar genetic and immunological features of the disease when occurring in the context of this syndrome. © 2016 by the authors; licensee MDPI, Basel, Switzerland.


Fierabracci A.,Childrens Hospital Bambino Gesu
Journal of Endocrinology | Year: 2012

Continuing advances in stem cell science have prompted researchers to envisage the potential application of stem cells for the management of several debilitating disorders, thus raising the expectations of transplant clinicians. In particular, in order to find a source of adult stem cells alternative to embryonic stem cells (ESCs) for the exploration of novel strategies in regenerative medicine, researchers have attempted to identify and characterise adult stem/progenitor cells resident in compact organs, since these populations appear to be responsible for physiological tissue renewal and regeneration after injury. In particular, recent studies have also reported evidence for the existence of adult stem/progenitor cell populations in both mouse and human thyroids. Here, I provide a review of published findings about ESC lines capable of generating thyroid follicular cells, thyroid somatic stem cells and cancer stem cells within the thyroid. The three subjects are analysed by also considering the criticism recently raised against their existence and potential utility. I comment specifically on the significance of resident thyroid stem cells in the developmental biology of the gland and their putative role in the pathogenesis of thyroid disorders and on the protocols employed for their identification. I finally provide my opinion on whether from basic science results obtained to date it is possible to extrapolate any convincing basic for future treatment of thyroid disorders. © 2012 Society for Endocrinology.


Fierabracci A.,Childrens Hospital Bambino Gesu
Autoimmunity Reviews | Year: 2011

Since many years immunologists have being tried to answer the tantalizing enigma of immunological tolerance. Complex mechanisms in both thymus (central tolerance) and peripheral lymphoid organs (peripheral tolerance) underly lymphocyte tolerance and its maintenance. The genesis of autoimmunity involves environmental and genetic mechanisms, both contributing to the disruption and deregulation of central and peripheral tolerance, allowing autoreactive pathogenetic T and B-cell clones arising. Among genetic factors the autoimmune regulator (AIRE) gene is one of the best candidates to understand the complex scenario of autoimmunity. Autoimmune polyendocrinopathy syndrome type 1 is a rare autosomal recessive disease caused by mutations in the AIRE gene. Therefore, the disorder has certainly been a powerful model to address the question concerning how a tolerant state is achieved or maintained and to explore how it has gone lost in the context of autoimmunity. AIRE has been proposed to function as a 'non classical' transcription factor, strongly implicated in the regulation of organ-specific antigen expression in thymic epithelial cells and in the imposition of T cell tolerance, thus regulating the negative selection of autoreactive T cell clones. A plethora of proposal have been suggested for AIRE's potential mechanism of action, thus regulating the negative selection of autoreactive T cells. In this review recent discoveries are presented into the role and molecular mechanisms of the AIRE protein in APECED and other autoimmune diseases. © 2010 Elsevier B.V.


Caravale B.,Childrens Hospital Bambino Gesu | Mirante N.,Childrens Hospital Bambino Gesu | Vagnoni C.,Azienda Sanitaria Locale di Viterbo | Vicari S.,Childrens Hospital Bambino Gesu
Early Human Development | Year: 2012

Background: More information is needed on 'low-risk' preterm infants' neurological outcome so that they can be included in follow-up programs at least until school age. Objective: To examine the neuropsychological outcome in a group of low-risk low birth weight (LBW) children without neurological impairment followed from birth to 5. years of age. Patients: 26 intellectually normal children born preterm (30-34. weeks gestation) without major neurological disabilities and 23 control children born at term and matched for age, sex, and parental educational and occupational status. Methods: Subjects already evaluated at 3. years of age underwent assessment again at 5. years using as neuropsychological outcome measures a wide range of tests including perceptual and visual-motor function, language comprehension and expression, and attention skills. Results: When tested at 5. years, children born preterm still obtained significantly lower mean scores than controls on visual motor integration test (57 vs 64, p = 0.01), visual perception test (41 vs 43, p = 0.002) and a trend toward a lower score in the picture vocabulary test (81 vs 85.5, p = 0.07). The group of premature infants and controls improved their performance over time in the neuropsychological abilities investigated and, in some skills such as visual perception. Children born preterm took longer than those born at term to reach similar performance levels, 5 versus 3. years. Conclusion: Ex low-risk children born preterm achieve lower scores over time in visual-motor and perceptual ability scales and in some language tests than children born at term. Like high-risk premature infants even those at low risk deserve regular follow-up with long-term programs. © 2011 Elsevier Ltd.


Vivarelli M.,Childrens Hospital Bambino Gesu | Emma F.,Childrens Hospital Bambino Gesu
Seminars in Thrombosis and Hemostasis | Year: 2014

C3 glomerulopathy (C3G) is a newly defined clinical entity comprising glomerular lesions with predominant C3 staining. Under this definition are now included membranoproliferative glomerulonephritis type II (dense deposit disease) and C3 glomerulonephritis. This group of glomerular diseases with a heterogeneous histological aspect shares a common pathogenesis, that is, a dysregulation of the alternative pathway of complement in the fluid phase leading to C3 deposition in the kidney. Recent advances have expanded our understanding of the underlying mechanisms, leading to the hypothesis that blocking the alternative complement pathway may be an effective treatment for C3Gs, as has been shown in other renal diseases driven by alternative pathway dysregulation, such as atypical hemolytic uremic syndrome. Results of 11 published cases of patients with different forms of C3G treated with eculizumab, an anti-C5 humanized monoclonal antibody, are encouraging. Given the complexity of disease pathogenesis in C3G, a patient-tailored approach including a comprehensive workup of complement abnormalities is necessary to evaluate the best treatment options. Clinical trials assessing effectiveness of different complement blockers on the background of the individual complement profile are needed. © 2014 by Thieme Medical Publishers, Inc.


Fierabracci A.,Childrens Hospital Bambino Gesu
Current Drug Targets | Year: 2012

Since the discovery of proteasome in the late 1980s, the ubiquitin-proteasome system has been found to exert an important physiological function in all the cells of living organisms - that of ensuring homeostasis. All cell cycle, apoptosis, differentiation, transcription, protein quality control and antigen processing activities require the efficiency of this system. As a matter of fact, several pathological conditions are characterized by deregulation of the ubiquitinproteasome system. These include cancer, neurodegenerative diseases, viral infections and autoimmune diseases. This has stimulated interest in developing proteasome inhibitors for their treatment, but clinical application has been limited due to the toxicity of these compounds. Following experiences with the first proteasome inhibitor, bortezomib, in the treatment of hematologic malignancies, several molecules with proteasome inhibitor properties were discovered and they were also exploited for the treatment of experimental models of human autoimmunity. Autoimmune disorders are a heterogeneous group of conditions, both organ- and non-organ-specific, whose incidence is increasing worldwide. This has stimulated interest in discovering novel predictive strategies and therapeutics. Here we provide a review of the use of proteasome inhibitors in treating autoimmune conditions and, in particular, systemic autoimmune diseases, inflammatory bowel disease, multiple sclerosis and organ-specific autoimmune diseases. We also present perspectives derived from more recently discovered compounds with proteasome inhibitor activity and discuss their potential in the management of these disorders. © 2012 Bentham Science Publishers.


Menghini D.,Childrens Hospital Bambino Gesu | Costanzo F.,Childrens Hospital Bambino Gesu | Vicari S.,Childrens Hospital Bambino Gesu
Behavior Genetics | Year: 2011

We investigated regional grey matter (GM) density in adolescents with Down syndrome (DS) compared to age-matched controls and correlated MRI data with neuropsychological measures in the DS group. Inter-group comparisons documented several GM concentration abnormalities in the participants with DS compared to controls. In the adolescents with DS, intra-group results also showed associations between regional GM density and the neuropsychological measures considered. In particular, GM density of the cerebellum and middle and inferior temporal gyrus was associated with linguistic measures. Short-term memory performances were correlated with the inferior parietal lobule, insula, superior temporal gyrus, medial occipital lobe, and cerebellum. Long-term memory abilities were correlated with GM density in the orbitofrontal cortex, lateral and medial temporal lobe regions, and anterior cingulum and visuo-perceptual abilities with GM density the left middle frontal gyrus. Results of this preliminary study are consistent with a not always efficient brain organization in DS. © 2011 Springer Science+Business Media, LLC.


Fierabracci A.,Childrens Hospital Bambino Gesu | Saura F.,Childrens Hospital Bambino Gesu
Diabetes Research and Clinical Practice | Year: 2010

A common epitope of proteins golgin-160, voltage-gated potassium channel and disulfide isomerase was identified by screening with autoantibodies of a type 1 diabetic (T1D) patient a λUni-Zap cDNA library from human diabetic islets. The significance of the identified autoantigens to the disease pathogenesis remains to be elucidated. © 2010 Elsevier Ireland Ltd.

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