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Miceli Sopo S.,Catholic University of the Sacred Heart | Greco M.,Catholic University of the Sacred Heart | Monaco S.,Catholic University of the Sacred Heart | Tripodi S.,Paediatric Allergology Unit | Calvani M.,San Camillo de Lellis Hospital
Expert Review of Clinical Immunology | Year: 2013

Food protein-induced enterocolitis syndrome (FPIES) is an allergic disease, probably non-IgE-mediated, with expression predominantly in the GI tract. The most characteristic symptom is repeated, debilitating vomiting. It occurs 2-6 h after ingestion of culprit food and is usually accompanied by pallor and lethargy. There may be diarrhea, and in 10-20% of cases, severe hypotension. These symptoms resolve completely within a few hours. The food most frequently involved is cow's milk, followed by rice, but many other foods may be involved. The prognosis is generally good in a few years. In this review the authors try to cope, with the help of some case histories, with the practical clinical aspects of FPIES. The authors also try to provide a management approach based on current knowledge, and finally, to point out the aspects of FPIES that are still controversial. © 2013 Informa UK Ltd. Source


Calvani M.,San Camillo de Lellis Hospital | Giorgio V.,Catholic University of Rome | Miceli Sopo S.,Catholic University of Rome
European Annals of Allergy and Clinical Immunology | Year: 2010

Background: Specific oral tolerance induction (SOTI) is a new therapeutic approach in the treatment of persistent food allergy. Objective: The purpose of this article is to systematically review the literature in order to identify, appraise, and synthesize the evidence about SOTI efficacy and safety. Methods: A comprehensive search for citations was conducted on May 2, 2009 using MEDLINE via PubMed. Randomized controlled trials (RCT's) including subjects of any age were considered. All these studies were assessed, discussed in details and evaluated for quality by authors in a standardized independent way. Results: 15 clinical trials were found. Cf these, six trials met the inclusion criteria: three were open label RCT, three were double blind placebo controlled RCT. Two were conducted using sublingual immunotherapy, four using oral desensitization. Overall, the methodological quality of the studies was sufficient. The mean Jadad score of the studies was 3,33 (range = 2-5). Main characteristics and results of the studies were showed and discussed. Conclusions: SOTI seems to be a possible approach to accelerate the development of tolerance in children affected by food allergy. However, other studies are needed to clarify which is the best treatment and protocol to follow in order to reduce the adverse events and to increase the percentage of success, before thinking that SOTI might be part of the clinical practice. Source


Marrocco G.,San Camillo de Lellis Hospital
American Journal of Medical Genetics, Part A | Year: 2012

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region. © 2012 Wiley Periodicals, Inc. Source


Sperandeo M.,Unit of Internal Medicine | Varriale A.,Unit of Internal Medicine | Sperandeo G.,IRCCS Casa Sollievo Della Sofferenza Hospital | Polverino E.,Biomedical Research Center in Red Lung Disease | And 11 more authors.
Acta Radiologica | Year: 2012

Background: Recent reports indicate that numerical assessment of B-lines during transthoracic ultrasound may aid the differential diagnosis of acute diffuse pleuropulmonary disorders. Purpose: To determine whether B-lines are different in normal and diseased lungs and whether they can be used to discriminate between different types of pulmonary disorders in acutely ill patients. Material and Methods: In this multicenter study, transthoracic ultrasonography was performed on 193 patients with acute dyspnea, 193 healthy non-smokers, and 58 patients who had undergone pneumonectomy for lung cancer. Examinations were done with a low-medium frequency (3.5-5.0 MHz) convex probe and a high-frequency (8-12.5 MHz) linear probe. Video recordings were re-examined by a second set of examiners. In each participant, we measured the number of B-lines observed per scan. Results: B-lines counts were higher in dyspnoic patients (means: 3.11 per scan per linear probe scan vs. 1.93 in healthy controls and 1.86 in pneumonectomized patients; P, 0.001 for all); all counts were higher when convex probes were used (5.4 in dyspnoic patients and 2 in healthy controls; P, 0.001 vs. the linear probe). Subgroups of dyspnoic patients defined by cause of dyspnea displayed no significant differences in the number of B-lines. Conclusion: Our results demonstrate that there are a significant higher number of B-lines in the lungs of patients with dyspnea compared to healthy subjects and to pneumonectomized patients. Nevertheless, the quantification of B-lines does not make any significant contribution to the differential diagnosis of dyspnea. Source


Barbagallo I.,University of Catania | Galvano F.,University of Catania | Frigiola A.,IRCCS Policlinico S. Donato | Cappello F.,University of Palermo | And 8 more authors.
Antioxidants and Redox Signaling | Year: 2013

Significance: Many physiological effects of natural antioxidants, their extracts or their major active components, have been reported in recent decades. Most of these compounds are characterized by a phenolic structure, similar to that of α-tocopherol, and present antioxidant properties that have been demonstrated both in vitro and in vivo. Polyphenols may increase the capacity of endogenous antioxidant defenses and modulate the cellular redox state. Such effects may have wide-ranging consequences for cellular growth and differentiation. Critical Issues: The majority of in vitro and in vivo studies conducted so far have attributed the protective effect of bioactive polyphenols to their chemical reactivity toward free radicals and their capacity to prevent the oxidation of important intracellular components. One possible protective molecular mechanism of polyphenols is nuclear factor erythroid 2-related factor (Nrf2) activation, which in turn regulates a number of detoxification enzymes. Recent Advances: Among the latter, the heme oxygenase-1 (HO-1) pathway is likely to contribute to the established and powerful antioxidant/anti-inflammatory properties of polyphenols. In this context, it is interesting to note that induction of HO-1 expression by means of natural compounds contributes to prevention of cardiovascular diseases in various experimental models. Future Directions: The focus of this review is on the role of natural HO-1 inducers as a potential therapeutic strategy to protect the cardiovascular system against various stressors in several pathological conditions. © Mary Ann Liebert, Inc. Source

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