Le Basi biochimiche e molecolari delle talassemie e la diagnosi dell'Alfa-talassemia eterozigote

Recent aspects of molecular and biochemical basis of thalassemic syndromes are described together with laboratory methods suitable for diagnosis and screening of heterozygous α-thalassemia

Le Sindromi talassemiche

Recent developements of molecular biology and genetic of thalassemia syndromes are discussed with special regard to Sardinian situation. In the island heterozygous α and β thalassernias are present with incidences of 13,5 and 12,5% respectively. β+ and δβ thalassemias together with several types of HPFH, are also present. Screening programs at level of couples are suggested for the prevention of β thalassemic homozygosity

Editorial: Language Representation and Learning in Cognitive and Artificial Intelligence Systems

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Conceptual development from the perspective of a brain-inspired robotic architecture

Concepts are central to reasoning and intelligent behaviour. Scientific evidence shows that conceptual development is fundamental for the emergence of high-cognitive phenomena. Here, we model such phenomena in a brain-inspired cognitive robotic model and examine how the robot can learn, categorise, and abstract concepts to voluntary control behaviour. The paper argues that such competence arises with sufficient conceptual content from physical and social experience. Hence, senses, motor abilities and language, all contribute to a robot's intelligent behaviour. To this aim, we devised a method for attaining concepts, which computationally reproduces the steps of the inductive thinking strategy of the Concept Attainment Model (CAM). Initially, the robot is tutor-guided through socio-centric cues to attain concepts and is then tested consistently to use these concepts to solve complex tasks. We demonstrate how the robot uses language to create new categories by abstraction in response to human language-directed instructions. Linguistic stimuli also change the representations of the robot's experiences and generate more complex representations for further concepts. Most notably, this work shows that this competence emerges by the robot's ability to understand the concepts similarly to human understanding. Such understanding was also maintained when concepts were expressed in multilingual lexicalisations showing that labels represent concepts that allowed the model to adapt to unfamiliar contingencies in which it did not have directly related experiences. The work concludes that language is an essential component of conceptual development, which scaffolds the cognitive continuum of a robot from low-to-high cognitive skills, including its skill to understand

The Oxidative state of LDL is the major determinant of anti/prooxidant effect of coffee on Cu²⁺ catalysed peroxidation

Antioxidants exert contrasting effect on low density lipoprotein (LDL) oxidation catalysed by metals, acting as pro-oxidants under select in vitro conditions. Through our study on the effect of coffee on LDL oxidation, we identified the parameters governing this phenomenon, contributing to the comprehension of its mechanism and discovering significant implications for correct alimentary recommendations. By measuring conjugated diene formation, we have analysed the quantitative and qualitative effects exerted by an extract of roasted coffee on LDL oxidation triggered by copper sulphate. When the relative effects of different coffee concentrations were plotted against the lag time (LT) of control LDL (C-LDL), the apparently random experimental data arranged in sensible patterns: by increasing the LT the antioxidant activity of coffee decreased progressively to become prooxidant. The critical LT, at which coffee switches from antioxidant to prooxidant, increased by increasing coffee concentration. Also the contrasting results obtained following a delayed addition of coffee to the assay, arranged in a simple pattern when referred to the LT of C-LDL: the prooxidant effect decreased to become antioxidant as the LT of C-LDL increased. The dependence of coffee effect on the LT of C-LDL was influenced by LDL but not by metal catalyst concentration. These novel findings point to the oxidative state of LDL as a major parameter controlling the anti/prooxidant effect of coffee and suggest the LT of C-LDL as a potent analytical tool to express experimental data when studying the action exerted by a compound on LDL oxidation

New Techniques in Diagnostic X-ray Imaging: A Simulation Tool and Experimental Findings

Abstract Absorption X-ray imaging is a well-established technique. However it is still a challenging task in its search for a compromise between the need for high spatial resolution and high contrast and the request to keep the dose delivered to the patient within acceptable values. New imaging techniques are under investigation, like the use of new X-ray sources, phase contrast imaging or K-edge imaging. Monte Carlo or analytic simulations are often the best way to test and predict the effectiveness of these techniques. A new simulation tool for X-ray imaging will be presented together with some applications to the characterization of new X-ray sources, in-line phase contrast effect and angiographic K-edge imaging. Simulation results will be compared also with experimental dat

A New automatic system of cell colony counting

The counting process of cell colonies is always a long and laborious process that is dependent on the judgment and ability of the operator. The judgment of the operator in counting can vary in relation to fatigue. Moreover, since this activity is time consuming it can limit the usable number of dishes for each experiment. For these purposes, it is necessary that an automatic system of cell colony counting is used. This article introduces a new automatic system of counting based on the elaboration of the digital images of cellular colonies grown on petri dishes. This system is mainly based on the algorithms of region-growing for the recognition of the regions of interest (ROI) in the image and a Sanger neural net for the characterization of such regions. The better final classification is supplied from a Feed-Forward Neural Net (FF-NN) and confronted with the K-Nearest Neighbour (K-NN) and a Linear Discriminative Function (LDF). The preliminary results are shown

The Oxidative State of LDL is the Major Determinant of Anti/Prooxidant Effect of Coffee on Cu2+ Catalysed Peroxidation

Antioxidants exert contrasting effect on low density lipoprotein (LDL) oxidation catalysed by metals, acting as pro-oxidants under select in vitro conditions. Through our study on the effect of coffee on LDL oxidation, we identified the parameters governing this phenomenon, contributing to the comprehension of its mechanism and discovering significant implications for correct alimentary recommendations. By measuring conjugated diene formation, we have analysed the quantitative and qualitative effects exerted by an extract of roasted coffee on LDL oxidation triggered by copper sulphate. When the relative effects of different coffee concentrations were plotted against the lag time (LT) of control LDL (C-LDL), the apparently random experimental data arranged in sensible patterns: by increasing the LT the antioxidant activity of coffee decreased progressively to become prooxidant. The critical LT, at which coffee switches from antioxidant to prooxidant, increased by increasing coffee concentration. Also the contrasting results obtained following a delayed addition of coffee to the assay, arranged in a simple pattern when referred to the LT of C-LDL: the prooxidant effect decreased to become antioxidant as the LT of C-LDL increased. The dependence of coffee effect on the LT of C-LDL was influenced by LDL but not by metal catalyst concentration. These novel findings point to the oxidative state of LDL as a major parameter controlling the anti/prooxidant effect of coffee and suggest the LT of C-LDL as a potent analytical tool to express experimental data when studying the action exerted by a compound on LDL oxidation

Sudden Unexpected Deaths and Vaccinations during the First Two Years of Life in Italy: A Case Series Study

Background The signal of an association between vaccination in the second year of life with a hexavalent vaccine and sudden unexpected deaths (SUD) in the two days following vaccination was reported in Germany in 2003. A study to establish whether the immunisation with hexavalent vaccines increased the short term risk of SUD in infants was conducted in Italy. Methodology/Principal Findings The reference population comprises around 3 million infants vaccinated in Italy in the study period 1999–2004 (1.5 million received hexavalent vaccines). Events of SUD in infants aged 1–23 months were identified through the death certificates. Vaccination history was retrieved from immunisation registries. Association between immunisation and death was assessed adopting a case series design focusing on the risk periods 0–1, 0–7, and 0–14 days after immunisation. Among the 604 infants who died of SUD, 244 (40%) had received at least one vaccination. Four deaths occurred within two days from vaccination with the hexavalent vaccines (RR = 1.5; 95% CI 0.6 to 4.2). The RRs for the risk periods 0–7 and 0–14 were 2.0 (95% CI 1.2 to 3.5) and 1.5 (95% CI 0.9 to 2.4). The increased risk was limited to the first dose (RR = 2.2; 95% CI 1.1 to 4.4), whereas no increase was observed for the second and third doses combined. Conclusions The RRs of SUD for any vaccines and any risk periods, even when greater than 1, were almost an order of magnitude lower than the estimates in Germany. The limited increase in RRs found in Italy appears confined to the first dose and may be partly explained by a residual uncontrolled confounding effect of age

Non-pharmacological management of osteoporosis: a consensus of the Belgian Bone Club

This consensus article reviews the various aspects of the non-pharmacological management of osteoporosis, including the effects of nutriments, physical exercise, lifestyle, fall prevention, and hip protectors. Vertebroplasty is also briefly reviewed. Non-pharmacological management of osteoporosis is a broad concept. It must be viewed as an essential part of the prevention of fractures from childhood through adulthood and the old age. The topic also includes surgical procedures for the treatment of peripheral and vertebral fractures and the post-fracture rehabilitation. The present document is the result of a consensus, based on a systematic review and a critical appraisal of the literature. Diets deficient in calcium, proteins or vitamin D impair skeletal integrity. The effect of other nutriments is less clear, although an excessive consumption of sodium, caffeine, or fibres exerts negative effects on calcium balance. The deleterious effects of tobacco, excessive alcohol consumption and a low BMI are well accepted. Physical activity is of primary importance to reach optimal peak bone mass but, if numerous studies have shown the beneficial effects of various types of exercise on bone mass, fracture data as an endpoint are scanty. Fall prevention strategies are especially efficient in the community setting, but less evidence is available about their effectiveness in preventing fall-related injuries and fractures. The efficacy of hip protectors remains controversial. This is also true for vertebroplasty and kyphoplasty. Several randomized controlled studies had reported a short-term advantage of vertebroplasty over medical treatment for pain relief, but these findings have been questioned by recent sham-controlled randomized clinical studies