5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis

For children with juvenile idiopathic arthritis (JIA) who fail to respond to methotrexate, the delay in identifying the optimal treatment at an early stage of disease can lead to long-term joint damage. Recent studies indicate that relevant variants to predict methotrexate response in JIA are those in 5-aminoimidazole-4-carboxamide ribonucleotide-transformylase (ATIC), inosine-triphosphate-pyrophosphatase (ITPA) and solute-liquid-carrier-19A1 genes. The purpose of the study was, therefore, to explore the role of these candidate genetic factors on methotrexate response in an Italian cohort of children with JIA. Clinical response to methotrexate was evaluated as clinical remission stable for a 6-month period, as ACRPed score and as change in Juvenile Arthritis Disease score. The most relevant SNPs for each gene considered were assayed on patients' DNA. ITPA activity was measured in patients' erythrocytes. Sixty-nine patients with JIA were analyzed: 52.2 % responded to therapy (ACRPed70 score), while 37.7 % reached clinical remission stable for 6 months. ATIC rs2372536 GG genotype was associated with improved clinical remission (adjusted p value = 0.0090). For ITPA, rs1127354 A variant was associated with reduced clinical remission: (adjusted p value = 0.028); this association was present even for patients with wild-type ITPA and low ITPA activity. These preliminary results indicate that genotyping of ATIC rs2372536 and ITPA rs1127354 variants or measuring ITPA activity could be useful to predict methotrexate response in children with JIA after validation by further prospective studies on a larger patient cohort

Automatic generation of power state machines through dynamic mining of temporal assertions

Several papers propose approaches based on power state machines (PSMs) for modelling and simulating the power consumption of system-on-chips (SoCs). However, while they focus on the use of PSMs as the underlying formalism for imple- menting dynamic power management techniques, they generally do not deal with the basic problem of generating PSMs. In most of these papers, PSMs just exist, in some cases they are manually defined, and only a few approaches give a hint of semi- automatic generation, but no fully-automatic approach exists in the literature. Indeed, without an automatic procedure, an accurate power characterization of complex SoCs by using PSMs is almost impossible. Thus, in this paper, first a methodology for the automatic generation of PSMs is proposed, and then, a statistical approach based on a Hidden Markov Model is presented for their simulation. The core of the approach is based on a mining procedure whose role consists of extracting temporal assertions describing the functional behaviours of the IP, which are then automatically mapped on states of the PSMs and characterized from the energy consumption point of view

An unusual unilateral breast enlargement in a prepubertal girl

A girl aged 4 years and 3 months presented to our department for a right breast mass, slowly enlarging since the age of 6 months. The mass was tender at the outer and harder at the medial quadrants to palpation, with apparently regular margins. The nipple over the mass was not altered

Influence of Different Modalities of Grape Withering on Volatile Compounds of Young and Aged Corvina Wines

Withering is a practice traditionally used in various regions to produce sweet or dry wines. During withering there is an increase in sugar content but also a modification in volatile compound profiles. Controlling metabolic changes through the dehydration process to obtain wines with desired characteristics is therefore a challenging opportunity. The effects of two different withering technologies, post-harvest or on-vine with blocked sap vessel flow, on the volatile profile of young and aged Corvina red wines was investigated. The results showed that modulation of wine aroma due to the withering process is associated with fermentative metabolites, such as esters, higher alcohols, and acids, as well as grape-related compounds such as C6 alcohols, terpenes and norisoprenoids. Significant differences were also found by comparing the two withering techniques. Post-harvest in a traditional "fruttaio" warehouse wines showed higher content of ethyl acetate, ethyl butanoate, \u3b2-citronellol and 3-oxo-\u3b1-ionol, whereas post-harvest withering on-vine increased \u3b2-damascenone in wines. The type of withering technique has an influence on the evolution of some aroma compounds during the aging of wine, among them linalool, (E)-1-(2,3,6-trimethylphenyl)buta-1,3-diene (TPB), n-hexyl acetate, ethyl acetate, ethyl 3-methylbutanoate, 3-oxo-\u3b1-ionol and \u3b2-damascenone