FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unrelated families with one FXS child and another sibling presenting mild intellectual disability and behavioral features evocative of FXS. Genetic characterization of the undiagnosed sibling revealed mosaicism in both the CGG expansion size and the methylation levels in the different tissues analyzed. This report shows that in the same family, two siblings carrying different CGG repeats, one in the full-mutation range and the other in the premutation range, present methylation mosaicism and consequent decreased FMRP production leading to FXS and FXS-like features, respectively. Decreased FMRP levels, more than the number of repeats seem to correlate with the severity of FXS clinical phenotypes

Development of a semi-automatic bibliometric system for publications on animal health and welfare: a methodological study

Bibliometrics is a common research instrument for systemic analysis of scientificprogress in many disciplines, including veterinary sciences. However, bibliometricanalyses are generally biased by limited information included in scientific productionsdatabases. The aim of this study is to propose a method for implementing databases onlivestock health and welfare in a bibliometric perspective. By using the detailed classificationof the scientific disciplines and the list of keywords of the CAB Abstracts , querieswere first built to combine 120 descriptors related to animal species and 1680 descriptorsrelated to the given thematics. Then, the extraction was done from the Web of Science .The overall process focused on the research institutes localised in Europe and on publicationswritten in English. To assess the database accuracy, supplementary filters werevalidated and applied to discard non-specific terms and neighbouring topics. Additionalfields for species groups, infectious and non-infectious diseases, welfare components andgeographical regions were incorporated according to thematic terminologies specificallyestablished. The final database contains 57,523 articles published over a 12 years’ period(2003–2014). The developed method, based on the complementary use of both the CABAbstracts and Web of Science , can be a reference to allow an adequate semi-automaticretrieval of relevant publications on livestock health and welfare, which will be of use toimplement bibliometric study to produce a realistic assessment of tendency for drivingscience policy. Interestingly, it can be also a model process to be easily applied toimplement bibliometric studies for any other scientific thematic domain

Contenuto di polifenoli in uve e vini dell'Emilia-Romagna

L’uva ed il vino rosso rappresentano nella dieta mediterranea una delle principali fonti di molecole ad attività antiossidante. Nell’ambito di questo studio, sono state effettuate analisi su uve e vini dell’Emilia Romagna per verificare l’influenza di numerosi fattori (genetici, ambientali, produttivi) sul contenuto di polifenoli. Dati ottenuti su vitigni Sangiovese, Uva Longanesi e Ancellotta campionati nel 2004 hanno permesso di valutare l’influenza di genotipo, ubicazione del vigneto, stadio di maturazione dell’uva e fase del processo fermentativo sul contenuto di resveratrolo. Nuove metodologie di estrazione su fase solida, accoppiate ad analisi cromatografiche HPLC-DAD hanno consentito in campioni relativi alla vendemmia 2006, di separare e quantificare oltre al resveratrolo anche altri composti, tra cui catechine, altri stilbeni e flavonoidi anche in forma glucosilata, ed acidi idrossicinnamici. Sono stati quantificati i metaboliti presenti in polpa, buccia e vinaccioli dell’uva matura, per studiarne il sito di accumulo nell’acino, e la loro quantità nel vino, mettendo a confronto uve e vini rossi e bianchi. I risultati mostrano che cultivar e clone, ma soprattutto le caratteristiche ambientali di coltivazione, influiscono notevolmente sulla quantità di composti polifenolici

Helianthus tuberosus and polyamine research: Past and recent applications of a classical growth model

The earliest studies concerning polyamines (PAs) in plants were performed by using in vitro cultured explants of Helianthus tuberosus dormant tuber. This parenchyma tissue was particularly useful due to its susceptibility to several growth substances, including PAs. During tuber dormancy, PA levels are too low to sustain cell division; thus Helianthus represents a natural PA-deficient model. When cultivated in vitro in the presence of auxins, Helianthus tuber dormant parenchyma cells at the G(0) stage start to divide synchronously acquiring meristematic characteristics. The requirement for auxins to induce cell division can be substituted by aliphatic PAs such as putrescine, spermidine or spermine. Cylinders or slices of explanted homogeneous tuber parenchyma were cultured in liquid medium for short-term studies on the cell cycle, or on solid agar medium for long-term experiments. Morphological and physiological modifications of synchronously dividing cells were studied during the different phases of the cell cycle in relation to PAs biosynthesis and oxidation. Long-term experiments led to the identification of the PAs as plant growth regulators, as the sole nitrogen source, as tuber storage substances and as essential factors for morphogenetic processes and cell homeostasis. More recently this system was used to study the effects on plant cell proliferation of platinum- or palladium-derived drugs (cisplatin and platinum or palladium bi-substituted spermine) that are used in human cancer cell lines as antiproliferative and cytotoxic agents. Cisplatin was the most active both in cell proliferation inhibition and on PA metabolism. Similar experiments were performed using three agmatine analogous. Different effects of these compounds were observed on cell proliferation, free PA levels and enzyme activities, leading to a hypothesis of a correlation between their chemical structure and the agmatine metabolism in plants