Perceived need for an International Elective Experience among Italian Medical Residents.

In the contemporary society an International Health Elective (IHE) represents a strategic tool in order to implement future medical doctor\u2019s education. In Italy, in the last decade, an increasing interest of trainees and residents to IHE and opportunities was documented and supported by the reorganization of the Italian residency programs, provided by the Ministry for Education, University and Research (MIUR). Aim of the present study was to collect data on perceived need of medical residents for an IHE. A structured questionnaire was developed and administered to medical residents of Palermo\u2019s University who underwent their annual visit to the Occupational Health Physician Ambulatory (OHPA) of Palermo\u2019s University Hospital, in the period between March and October 2011. Medical residents more prone to undergo an IHE were, younger than 29 years old (p <0.01), attending the new educational system (p 0.02) and surgical residents (p= 0.0001). A negative opinion about the formative quality performances of the residency program was significantly associated with surgical residencies (p= 0.002). Future Italian surgeons are more prone to undergo an IHE and this statement is probably related to the not satisfying residency program. Residents attending the old educational system consider the IHE as a way to implement their professional perspectives possibly for their more realistic professional perspective facing an approaching future full of work uncertainties. Considering the future competition between medical professionals working in different EU contexts, the Italian Government should implement future medical education policy in order to provide for a Healthcare \u201cwithout Border\u201d in the EU

Multiple in vitro and in vivo regulatory effects of budesonide in CD4+ T lymphocyte subpopulations of allergic asthmatics.

Abstract BACKGROUND: Increased activation and increased survival of T lymphocytes characterise bronchial asthma. OBJECTIVES: In this study the effect of budesonide on T cell survival, on inducible co-stimulator T cells (ICOS), on Foxp3 and on IL-10 molecules in T lymphocyte sub-populations was assessed. METHODS: Cell survival (by annexin V binding) and ICOS in total lymphocytes, in CD4+/CD25+ and in CD4+/CD25- and Foxp3 and IL-10 in CD4+/CD25+ and in CD4+/CD25-cells was evaluated, by cytofluorimetric analysis, in mild intermittent asthmatics (n = 19) and in controls (n = 15). Allergen induced T lymphocyte proliferation and the in vivo effects of budesonide in mild persistent asthmatics (n = 6) were also explored. RESULTS: Foxp3 was reduced in CD4+/CD25- and in CD4+/CD25+ cells and ICOS was reduced in CD4+/CD25+ cells but it was increased in CD4+CD25-in asthmatics when compared to controls. In asthmatics, in vitro, budesonide was able to: 1) increase annexin V binding and to reduce ICOS in total lymphocytes; 2) increase annexin V binding and Foxp3 and to reduce ICOS in CD4+/CD25- cells; 3) reduce annexin V binding and to increase IL-10 and ICOS in CD4+/CD25+ cells; 4) reduce cell allergen induced proliferation. In vivo, budesonide increased ICOS in CD4+/CD25+ while it increased Foxp3 and IL-10 in CD4+/CD25+ and in CD4+/CD25- cells. CONCLUSIONS: Budesonide modulates T cell survival, ICOS, Foxp3 and IL-10 molecules differently in T lymphocyte sub-populations. The findings provided shed light on new mechanisms by which corticosteroids, drugs widely used for the clinical management of bronchial asthma, control T lymphocyte activation

Genetic screening of Fabry patients with EcoTILLING and HRM technology

<p>Abstract</p> <p>Background</p> <p>Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body, causing the onset of a multi-systemic disease with poor prognosis in adulthood. In this article, we describe two alternative methods for screening the <it>GLA </it>gene which codes for the α-galactosidase A enzyme in subjects with probable FD in order to test analysis strategies which include or rely on initial pre-screening.</p> <p>Findings</p> <p>We analyzed 740 samples using EcoTILLING, comparing two mismatch-specific<ul/>endonucleases, CEL I and ENDO-1, while conducting a parallel screening of the same samples using HRM (High Resolution Melting). Afterwards, all samples were subjected to direct sequencing. Overall, we identified 12 different genetic variations: -10C>T, -12G>A, -30G>A, IVS2-76_80del5, D165H, C172Y, IVS4+16A>G, IVS4 +68 A>G, c.718_719delAA, D313Y, IVS6-22C>T, G395A. This was consistent with the high genetic heterogeneity found in FD patients and carriers. All of the mutations were detected by HRM, whereas 17% of the mutations were not found by EcoTILLING. The results obtained by EcoTILLING comparing the CEL I and ENDO-1 endonucleases were perfectly overlapping.</p> <p>Conclusion</p> <p>On the basis of its simplicity, flexibility, repeatability, and sensitivity, we believe that<ul/>HRM analysis of the <it>GLA </it>gene is a reliable presequencing screening tool. This method can be applied to any genomic feature to identify known and unknown genetic alterations, and it is ideal for conducting screening and population studies.</p

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Percezione della necessità di svolgere tirocini formativi in ambito internazionale (International Health Electives) tra i medici in formazione specialistica dell’Università degli Studi di Palermo.

Introduzione Nell’attuale scenario mondiale, ricevere una formazione in salute globale (global health) e poter intraprendere una esperienza formativa in ambito internazionale (International Health Elective, IHE) rappresentano validi strumenti per migliorare il percorso educativo della futura classe medica. Pochi studi hanno valutato l’impatto che una IHE può esercitare nei confronti dei medici in formazione specialistica. Considerato che in Italia è stato riscontrato un interesse crescente nei confronti degli IHE, lo scopo dello studio è stato quello di analizzare i dati relativi alla percezione della necessità di svolgere esperienze formative internazionali in un campione di medici in formazione specialistica dell’Università degli Studi di Palermo. Materiali e Metodi E’ stato realizzato un questionario, strutturato in diverse sezioni, che è stato somministrato ai medici in formazione specialistica dell’Università degli Studi di Palermo che si sono recati, nel periodo tra Marzo ed Ottobre 2011, per la visita annuale presso l’ambulatorio del Medico Competente dell’Azienda Ospedaliera Universitaria Policlinico “Paolo Giaccone”. Risultati Il Su 918 medici in formazione specialistica, 414 hanno completato e consegnato il questionario (45.1%). Il 63.8% (n=264) dei medici intervistati ha manifestato la volontà di recarsi in un paese straniero per un periodo di formazione professionale. La principale ragione riportata per motivare la risposta è stata quella di avere migliori prospettive di crescita professionale. I medici in formazione specialistica maggiormente disposti a svolgere una IHE sono stati gli intervistati con meno di 29 anni (p <0.01),che appartengono al nuovo ordinamento didattico (p 0.02), entrato in vigore con Decreto del Ministero dell’Istruzione, dell’Università e della Ricerca sul Riassetto delle scuole di specializzazione di area sanitaria dall’Anno Accademico 2008/09, e che frequentano una scuola di specializzazione di pertinenza chirurgica (p= 0.0001). Una valutazione negativa sulla qualità della formazione è significativamente associata alle scuole di specializzazione del settore chirurgico (p= 0.002). Discussione e Conclusioni I medici in formazione specialistica considerano le IHE uno strumento per migliorare la loro formazione in ambito specialistico e per ampliare le loro prospettive professionali in uno scenario caratterizzato da una tragica incertezza lavorativa. I futuri chirurghi italiani sono maggiormente predisposti a compiere una IHE e questo è probabilmente correlato all’insoddisfazione per la formazione impartita dalla loro scuola di specializzazione. Considerando la competizione che si instaurerà tra medici specialisti trai i diversi paesi dell’Unione Europea (UE), i governi europei dovrebbero migliorare le strategie educative in modo da garantire standard qualitativi paragonabili tra i vari Paesi membri dell’UE

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.

Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We describe the case of a 40-year-old female patient who presented with transient ischemic attack (TIA), discomfort in her hands, intolerance to cold and heat, severe angina and palpitations, chronic kidney disease. Clinical, biochemical and molecular studies were performed. Conclusions Reported symptoms, peculiar findings in a renal biopsy – the evidence of occasional lamellar inclusions in podocytes and mesangial cells – and left ventricular (LV) hypertrophy, which are considered to be specific features of FD, as well as molecular evaluations, suggested the diagnosis of a classical form of FD. We detected four mutations in the GLA gene of the patient: -10C>T (g.1170C>T), c.370-77_-81del (g.7188-7192del5), c.640-16A>G (g.10115A>G), c.1000-22C>T (g.10956C>T). These mutations, located in promoter and intronic regulatory regions, have been observed in several patients with manifestations of FD. In our patient clinical picture showed a multisystemic involvement with early onset of symptoms, thus suggesting that these intronic mutations can be found even in patients with classical form of FD.</p

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

OBJECTIVES: Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). DESIGN AND METHODS: We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. RESULTS: In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. CONCLUSIONS: Patients with the c.614delC mutation show classical clinical manifestations of FD, and the male patient has no alpha-galactosidase A activity. These data suggest that c.614delC is a novel mutation associated with FD