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Trieste, Italy

Michieletto P.,IRCCS Eugenio Medea | Bonanni P.,IRCCS Eugenio Medea | Pensiero S.,IRCCS Burlo Garofolo
Journal of AAPOS | Year: 2011

Purpose: To provide detailed information about opthalmological findings in a group of patients with Angelman syndrome (AS). Methods: Consecutive patients with a genetically confirmed diagnosis of AS were submitted to ophthalmic and orthoptic examinations. Strabismus, visual acuity, cycloplegic refraction, and iris and fundus pigmentation were evaluated. Parents were also examined to compare the extent of fundus pigmentation. Results: A total of 34 patients were identified, representing 3 genetic classes: deletion, uniparental disomy, and mutation. Ametropia >1 D was present in 97% of cases: myopia in 9%, hyperopia in 76%, and astigmatism in 94%. Myopia and anisometropia were found only in the genetic deletion group. Strabismus, most frequently exotropia, was found in 24 patients (75%). Ocular hypopigmentation was observed in 18 subjects (53%), with choroidal involvement in 3 cases and isolated iris involvement in 4. Hypopigmentation was observed in all of the 3 genetic classes. Conclusions: Ophthalmic alterations in AS were observed more frequently than has been previously reported, except for ocular hypopigmentation, which was observed less frequently. Copyright © 2011 by the American Association for Pediatric Ophthalmology and Strabismus.

Bernardi S.,Baker IDI | Zauli G.,IRCCS Burlo Garofolo | Tikellis C.,Baker IDI | Candido R.,Diabetes Center 1 Triestina | And 4 more authors.
Clinical Science | Year: 2012

TRAIL [TNF (tumour necrosis factor)-related apoptosis-inducing ligand] has recently been shown to ameliorate the natural history of DM (diabetes mellitus). It has not been determined yet whether systemic TRAIL delivery would prevent the metabolic abnormalities due to an HFD [HF (high-fat) diet]. For this purpose, 27 male C57bl6 mice aged 8 weeks were randomly fed on a standard diet, HFD or HFD + TRAIL for 12 weeks. TRAIL was delivered weekly by intraperitoneal injection. Body composition was evaluated; indirect calorimetry studies, GTT (glucose tolerance test) and ITT (insulin tolerance test) were performed. Pro-inflammatory cytokines, together with adipose tissue gene expression and apoptosis, were measured. TRAIL treatment reduced significantly the increased adiposity associated with an HFD. Moreover, it reduced significantly hyperglycaemia and hyperinsulinaemia during a GTT and it improved significantly the peripheral response to insulin. TRAIL reversed the changes in substrate utilization induced by the HFD and ameliorated skeletal muscle non-esterified fatty acids oxidation rate. This was associated with a significant reduction of pro-inflammatory cytokines together with a modulation of adipose tissue gene expression and apoptosis. These findings shed light on the possible anti-adipogenic and anti-inflammatory effects of TRAIL and open new therapeutic possibilities against obesity, systemic inflammation and T2DM (Type 2 DM). © The Authors Journal compilation © 2012 Biochemical Society.

Stocco G.,University of Trieste | Londero M.,University of Trieste | Campanozzi A.,University of Foggia | Martelossi S.,IRCCS Burlo Garofolo | And 5 more authors.
Journal of Crohn's and Colitis | Year: 2010

Azathioprine is a thiopurine immunosuppressive antimetabolite used to chronically treat inflammatory bowel disease and autoimmune hepatitis. Azathioprine treatment is a long-term therapy and therefore it is at risk for non-adherence, which is considered an important determinant of treatment inefficacy. Measurement of 6-thioguanine and 6-methylmercaptopurine nucleotides has been recently suggested as a screener for non-adherence detection. We describe four young patients in which non-adherence to azathioprine therapy was detected only through the measurement of drug metabolite concentrations, and the criterion for non-adherence was undetectable metabolite levels. After the identification of non-adherence, patients and their families were approached and the importance of a correct drug administration was thoroughly enlightened and discussed; this allowed obtaining a full remission in all subjects. Our observations support the use of undetectable metabolite levels as indicators of non-adherence to therapy in azathioprine treated patients. The additional level of medical supervision given by this assay allows getting a better adherence to medical treatment, which results in an improvement in the response to therapy; these benefits may justify the costs associated with the assay. © 2010 European Crohn's and Colitis Organisation.

Coelho A.,Federal University of Pernambuco | Moura R.R.,Federal University of Pernambuco | Cavalcanti C.,Federal University of Pernambuco | Guimaraes R.L.,Federal University of Pernambuco | And 3 more authors.
Genetics and Molecular Research | Year: 2015

Genetic association studies determine how genes influence traits. However, non-detected population substructure may bias the analysis, resulting in spurious results. One method to detect substructure is to genotype ancestry informative markers (AIMs) besides the candidate variants, quantifying how much ancestral populations contribute to the samples’ genetic background. The present study aimed to use a minimum quantity of markers, while retaining full potential to estimate ancestries. We tested the feasibility of a subset of the 12 most informative markers from a previously established study to estimate influence from three ancestral populations: European, African and Amerindian. The results showed that in a sample with a diverse ethnicity (N = 822) derived from 1000 Genomes database, the 12 AIMs had the same capacity to estimate ancestries when compared to the original set of 128 AIMs, since estimates from the two panels were closely correlated. Thus, these 12 SNPs were used to estimate ancestry in a new sample (N = 192) from an admixed population in Recife, Northeast Brazil. The ancestry estimates from Recife subjects were in accordance with previous studies, showing that Northeastern Brazilian populations show great influence from European ancestry (59.7%), followed by African (23.0%) and Amerindian (17.3%) ancestries. Ethnicity self-classification according to skin-color was confirmed to be a poor indicator of population substructure in Brazilians, since ancestry estimates overlapped between classifications. Thus, our streamlined panel of 12 markers may substitute panels with more markers, while retaining the capacity to control for population substructure and admixture, thereby reducing sample processing time. © FUNPEC-RP.

Rizzardi C.,University of Trieste | Marzinotto S.,University of Udine | Avellini C.,University of Udine | Melato M.,IRCCS Burlo Garofolo | Mariuzzi L.,University of Udine
Anticancer Research | Year: 2012

Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumors of the gastrointestinal tract, and most of them harbor KIT or platelet-derived growth factor receptor alpha (PDGFRA) gain-of-function mutations. Proper diagnostic assessment of GISTs has become very important since the availability of the molecular-targeted therapy with imatinib mesylate. Histopathology remains the gold standard in GIST diagnosis, and immunohistochemistry plays the major confirmatory role. Moreover, genetic sequencing not only further confirms the diagnosis of GIST, but also provides information for the optimal treatment of patients. Herein, we describe a gastric GIST harboring a novel PDGFRA exon 14 frameshift mutation caused by a single-nucleotide deletion. The case reported here represents further evidence regarding the existence of a distinct subset of GISTs characterized by the PDGFRA mutation, the gastric localisation, the epithelioid morphology, and the weak or negative immunohistochemical expression of KIT. DOG1 is emerging as a promising biomarker for this subgroup of GISTs.

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