12 research outputs found

    Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

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    We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6q12 familial deletion, was detected and in the second a 2.5 Mb 2p15p16.1 deletion (from 60.258 to 62.763 Mb), with a Xq28 deletion, was discovered. The common dysmorphic features and neurodevelopmental delay found in these patients are in agreement with the clinical phenotype of a microdeletion syndrome involving 2p15p16.1. Our data confirm the hypothesis suggesting that 2p15p16.1 deletion is a contiguous gene syndrome

    RAZIONALE VS EMOZIONALE. Progetto per la riqualificazione dell'area industriale di Mosciano S. Angelo.

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    Testo e progetto contenuto all'interno del libro: (a cura di) L. Pignatti, G. Vallese. TRASFORMING THE LANDSCAPE. Il progetto di trasformazione nei luoghi della produzione. Gangemi Editore, Roma 2011 Saggi, progetti e libro sono gli esisti e le riflessioni di un workshop di progettazione architettonica internazionale al quale hanno partecipato docenti, dottorandi e studenti di diverse nazioni europee. G. Mondaini. Responsabile Scientifico UNIVP

    The impact of nutrition on the lives of patients with digestive cancers: a position paper.

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    Nutritional intervention is an essential part of cancer treatments. Research and clinical evidence in cancer have shown that nutritional support can reduce length of hospitalisation, diminish treatment-related toxicity, and improve nutrient intake, quality of life, and physical function. Nutritional intervention can improve outcomes and help patients in the successful completion of oncological treatments by preventing malnutrition. Malnutrition is a very common hallmark in patients with cancers. Almost one-fourth of cancer patients are at risk of dying because of the consequences of malnutrition, rather than cancer itself. Patients with digestive cancers are at higher risk of suffering malnutrition due to the gastrointestinal impairment caused by their disease. They are at high nutritional risk by definition, yet the majority of them have insufficient or null access to nutritional intervention.Inadequate resources are dedicated to implementing nutritional services in Europe. Universal access to nutritional support for digestive cancer patients is not a reality in many European countries. To change this situation, health systems should invest in qualified staff to reinforce or create nutritional teams' experts in digestive cancer treatments. We aim to share the patient community's perspective on the status and the importance of nutritional intervention. This is an advocacy manuscript presenting data on the topic and analysing the current situations and the challenges for nutrition in digestive cancers. It highlights the importance of integrative nutrition in the treatment of digestive cancers and advocates for equitable and universal access to nutritional intervention for all patients
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