Valutazione energica di un edificio e riqualificazione con lo standard passivhaus.

Spiegazione del concetto di Casa Passiva con le relative certificazioni, con la valutazione energetica di un edificio realmente costruito situato a Bologna, dove verranno applicati gli standard di PassivHaus attraverso l'utilizzo di determinati software che studiano il comportamento dell'edificio durante l'intero periodo dell'anno

The social effect of "being imitated" in children with autism spectrum disorder

There is evidence that "being imitated" has social effects, and that the imitation of the child's actions may be used as a strategy to promote social engagement in children with autism spectrum disorder (ASD). The observation of someone that imitates us recruits, indeed, neural areas involved in social cognition. We reviewed studies exploring the behavioral consequences of "being imitated" in children with ASD. We aimed at assessing what are the social skills targeted by this strategy, and the factors that may improve the response. The "being imitated" strategy improves social gazes, proximal social behaviors, and play skills, particularly in children with low developmental level, and also when the strategy is implemented by children's mothers. The "being imitated" may be used as a tool in early intervention to improve social skills, helping to assess the effects of intervention at both behavioral and neural level

One-class support vector machines identify the language and default mode regions as common patterns of structural alterations in young children with autism spectrum disorders

The identification of reliable brain endophenotypes of autism spectrum disorders (ASD) has been hampered to date by the heterogeneity in the neuroanatomical abnormalities detected in this condition. To handle the complexity of neuroimaging data and to convert brain images in informative biomarkers of pathology, multivariate analysis techniques based on Support Vector Machines (SVM) have been widely used in several disease conditions. They are usually trained to distinguish patients from healthy control subjects by making a binary classification. Here, we propose the use of the One-Class Classification (OCC) or Data Description method that, in contrast to two-class classification, is based on a description of one class of objects only. This approach, by defining a multivariate normative rule on one class of subjects, allows recognizing examples from a different category as outliers. We applied the OCC to 314 regional features extracted from brain structural Magnetic Resonance Imaging (MRI) scans of young children with ASD (21 males and 20 females) and control subjects (20 males and 20 females), matched on age [range: 22-72 months of age; mean = 49 months] and non-verbal intelligence quotient (NVIQ) [range: 31-123; mean = 73]. We demonstrated that a common pattern of features characterize the ASD population. The OCC SVM trained on the group of ASD subjects showed the following performances in the ASD vs. controls separation: the area under the receiver operating characteristic curve (AUC) was 0.74 for the male and 0.68 for the female population, respectively. Notably, the ASD vs. controls discrimination results were maximized when evaluated on the subsamples of subjects with NVIQ = 70, leading to AUC = 0.81 for the male and AUC = 0.72 for the female populations, respectively. Language regions and regions from the default mode network-posterior cingulate cortex, pars opercularis and pars triangularis of the inferior frontal gyrus, and transverse temporal gyrus-contributed most to distinguishing individuals with ASD from controls, arguing for the crucial role of these areas in the ASD pathophysiology. The observed brain patterns associate preschoolers with ASD independently of their age, gender and NVIQ and therefore they are expected to constitute part of the ASD brain endophenotype

Inter-method reliability of brainstem volume segmentation algorithms in preschoolers with ASD

Introduction: The brainstem has a potential role in the pathophysiology of Autism Spectrum Disorders (ASD) (Roger, 2013). In particular, alterations in brainstem volume and their relationship with sensory/motor abnormalities have been suggested (Trevarthen & Delafield-Butt, 2013). However, the findings in volume alterations of subjects with ASD with respect to matched controls are controversial both in adults and children cohorts (Hardan, 2001; Piven, 1992; Kleiman, 1992). Moreover, the contribution to variability of brainstem volume measurements performed with different automated methods is still unclear. Methods: T1-weighted MRI brain scans of a cohort of 80 preschoolers (20 male controls, 20 male subjects with ASD, 20 female controls, 20 female subjects with ASD, mean age controls 49 months, std 12 months, mean age ASD 49 months, std 14) were processed with three different automated methods to measure the brainstem volume: Freesurfer 5.3 (Fischl, 2002), FSL-FIRST (Patenaude, 2011) and ANTs (Avants, 2011). Analysis of variance was then carried out taking into account gender and total brain volume in order to investigate potential brainstem volume differences between controls/ASD subjects for each method. A direct comparison of brainstem volume assessments in native space was then performed to assess inter-method reliability (correlation has been calculated by Pearson coefficient) and Dice similarity indexes were calculated to evaluate the segmentation agreement across methods. Results:The brainstem volume measurements are reported in scatter plots in Fig. 1 to show the agreement in terms of volume (in mm3) between different methods. The color represents the Dice similarity index (range 0-1 were 1 means total agreement) of the brainstem segmentations obtained by the methods under investigation. In Fig. 2 four examples of brainstem segmentations with the different methods are shown in sagittal view (brainstem segmentations are reported in red, green, blue for Freesurfer, FSL-FIRST and ANTs respectively). Pearson correlation coefficient between FSL-FIRST and Freesurfer brainstem volume assessments was 0.27 (p-value=0.02). It was 0.51 (p-value0.05).Conclusions:The inter-method reliability of automated algorithms for brainstem volume assessment is limited (the mean Dice similarity index barely reaches 0.8 in just one out of 3 comparisons). Inconsistencies across previous studies on brainstem and more in general the lack of evidence for brain biomarkers in ASD may in part be a result of this poor agreements in the extraction of structural features with different methods. Inter-method brainstem volume differences can be attributed to varying definitions of brainstem structure, the use of different templates (e.g. in our study only ANTs processed the brain scans by using an age-specific brain template) and the varying effects of imaging artifacts and acquisition settings. This study suggests that research on brain structure alterations should cross-validate findings across multiple methods before providing biological interpretations

Clinical characterization of a 6-year-old patient with autism and two adjacent duplications on 10q11.22q11.23. a case report

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism

Residual vein thrombosis and onset of post-thrombotic syndrome: Influence of the 4G/5G polymorphism of plasminogen activator inhibitor-1 gene

BACKGROUND: Plasminogen activator inhibitor-1 (PAI-1) is the most important inhibitor of plasminogen activator. The functional 4G/5G polymorphism of the gene coding for PAI-1 may affect PAI-1 plasmatic activity, influencing the imbalance between coagulation and fibrinolysis cascades. In this prospective cohort analytic study, we investigated the role of this single nucleotide polymorphism in the persistence of thrombotic lesion and the occurrence of post-thrombotic syndrome. PATIENTS/METHODS: In a group of 168 patients with post-surgical deep vein thrombosis of the legs, we analyzed the 4G/5G polymorphism in the promoter of PAI-1 gene and plasmatic PAI-1 activity. Enrolled patients were divided in two groups: patients with 4G/5G polymorphism and increased PAI-1 activity (n=85) and patients without 4G/5G polymorphism and normal PAI-1 activity (n=83). All patients were treated according to current protocols and re-examined after 3, 12 and 36months in order to evaluate the persistence of thrombotic lesion and the occurrence of post-thrombotic syndrome. RESULTS: We found a significantly increased PAI activity in carrier of the 4G allele, who experienced much more frequently a persistence of thrombosis after 3, 12 and 36months and/or the development of post-thrombosis syndrome, in spite of the anticoagulant treatment. CONCLUSIONS: These data not only confirm the role played by PAI-1 activity and by the 4G/5G SNP of the PAI-1 gene, but also suggest that current therapeutic protocols, recommending the administration of low weight molecular heparin and oral anticoagulant for the treatment of deep vein thrombosis, could be non sufficient for patients genetically predisposed to a less efficient clot lysis

Autistic traits and perspective taking in youths with anorexia nervosa: an exploratory clinical and eye tracking study

Background Despite their apparent dissimilarity, Anorexia Nervosa (AN) and Autism Spectrum Disorder (ASD) share many features, especially in terms of social and emotional difficulties. In recent years, empathic abilities in AN have been frequently assessed using self-report measures. Otherwise, the director task (DT) has been used to investigate the ability to take the visual perspective of another individual in a communicative context, using eye-tracking technology. The aim of the current study was to test the presence of autism-relevant features in AN, through: (i) comparing self-reported autistic traits and empathic abilities in a group of young inpatients with AN and age/gender matched healthy controls (HC); (ii) comparing performance on the director paradigm. Methods The participants were females in the age-range between 11 and 18 years: 24 with AN and 23 HC. Autistic traits, empathic abilities, and severity of the eating disorder were respectively measured using: the Autism Quotient (AQ), the Interpersonal Reactivity Index (IRI), and the Eating Disorder Inventory-3 (EDI-3). Both groups performed a computerized task in which a director instructed them to move objects placed on a set of shelves using a mouse, while their eye gaze was tracked. A total of 36 shelf configurations, divided into three categories (with dimensional distractor – with spatial distractor – control), were created. Results Subjects with AN showed higher autistic traits than HC. Eye-tracking data revealed that subjects with AN took longer to decide which object to select and where to move it, both in distractor-trials and in control-trials. In the AN group, we found a significant negative correlation between the total score of the AQ and the number of fixations to the irrelevant object in the dimensional control condition -in which the subjects were asked to focus on dimensional aspects of the object (large-small)-. Conclusions Autistic traits were over-represented in a group of young inpatients with AN. Through the use of eye-tracking technology, this exploratory study documented some differences between AN inpatients and HC in their online processes during the perspective taking tasks, which could be considered a target of tailored intervention. A larger sample of patients is needed to confirm these preliminary findings

Neural correlates of texture and contour integration in children with autism spectrum disorders

AbstractIn this study, we have used an electrophysiological paradigm to investigate the neural correlates of the visual integration of local signals across space to generate global percepts in a group of low functioning autistic kids. We have analyzed the amplitude of key harmonics of the Visual Evoked Potentials (VEPs) recorded while participants observed orientation-based texture and contour stimuli, forming coherent global patterns, alternating with visual patterns in which the same number of local elements were randomly oriented in order to loose any globally organized feature. Comparing the results of the clinical sample with those obtained in an age-matched control group, we have observed that in the texture conditions the 1st and 3rd harmonics, containing signature of global form processing (Norcia, Pei, Bonneh, Hou, Sampath, & Pettet, 2005), were present in the control group, while in the experimental group only the 1st harmonic was present. In the Contour condition the 1st harmonic was not present for both groups while the 3rd harmonic was significantly present in the control group but absent in the group with autism. Moreover, the amount of organization required to elicit significant 1st harmonic response in the texture condition was higher in the clinical group. The present results bring additional support to the idea that texture and contour processing are supported by independent mechanisms in normal vision. Autistic vision would thus be characterized by a preserved, perhaps weaker texture mechanism, possibly mediated by feedback interactions between visual areas, and by a disfunction of the mechanism supporting contour processing, possibly mediated by long-range intra-cortical connections. Within this framework, the residual ability to detect contours shown in psychophysical studies could be due to the contribution of the texture mechanism to contour processing

Behaviour of the plasma concentration of gelatinases and their tissue inhibitors in subjects with venous leg ulcers.

Venous leg ulcers are common in subjects with chronic venous insufficiency. The increased intraluminal pressure causes alteration of the skin microcirculation, leukocyte activation and release of proteolytic enzymes leading to ulceration. An impaired expression and activity of matrix metalloproteases (MMPs) and their tissue inhibitors (TIMPs) might influence extracellular matrix degradation and deposition in chronic venous ulcers with the failure of the healing process. Our aim was to evaluate plasma concentration of gelatinases (MMP-2 and MMP-9) and their inhibitors (TIMP-1 and TIMP-2) in subjects with venous leg ulcers before and after the compression therapy. We enrolled 36 subjects (12 men and 24 women, mean age 67.38 ± 12.7 yrs) with non-infected venous leg ulcers (CEAP C6), which underwent a color Duplex scan examination of the veins and arteries of the inferior limbs and were treated with a multi-layer bandaging system. The ulcer healing was obtained in 23 subjects only (9 men and 14 women). We evaluated, on fasting venous blood, the plasma levels of MMP-2, MMP-9, TIMP-1 and TIMP-2 using ELISA kit, before and after the treatment. We observed a significant increase in plasma concentration of gelatinases and their inhibitors and in MMP-2/TIMP-2 ratio in subjects with leg ulcers in comparison with normal controls. In subjects with healed ulcers we found a decrease in MMP-9 and TIMP-1 levels and in MMP-2/TIMP-2 ratio compared to the baseline values, although higher levels of all the examined parameters in comparison with normal controls. In conclusion, plasma MMPs profile is impaired in subjects with venous leg ulcers and it improves after the healing, persisting anyway altered in respect to healthy controls

Temporal lobe connects regression and macrocephaly to autism spectrum disorders

Interictal electroencephalogram (EEG) abnormalities are frequently associated with autism spectrum disorders (ASD), although their relationship with the clinical features of ASD, particularly the regressive onset, remains controversial. The aim of this study was to investigate whether the characteristics of interictal EEG abnormalities might help to distinguish and predict definite phenotypes within the heterogeneity of ASD. We reviewed the awake and sleep interictal EEGs of 220 individuals with idiopathic ASD, either with or without a history of seizures. EEG findings were analyzed with respect to a set of clinical variables to explore significant associations. A brain morphometry study was also carried out on a subgroup of patients. EEG abnormalities were seen in 154/220 individuals (70 %) and were mostly focal (p < 0.01) with an anterior localization (p < 0.001). They were detected more frequently during sleep (p < 0.01), and were associated with a regressive onset of ASD (p < 0.05), particularly in individuals with focal temporal localization (p < 0.05). This association was also stronger in regressive patients with concurrent macrocephaly, together with a relative volumetric reduction of the right temporal cortex (p < 0.05). Indeed, concurrence of temporal EEG abnormalities, regression and macrocephaly might possibly define a distinct endophenotype of ASD. EEG-based endophenotypes could be useful to untangle the complexity of ASD, helping to establish anatomic or pathophysiologic subtypes of the disorder