The integration of large-scale public data and network analysis uncovers molecular characteristics of psoriasis

In recent years, a growing interest in the characterization of the molecular basis of psoriasis has been observed. However, despite the availability of a large amount of molecular data, many pathogenic mechanisms of psoriasis are still poorly understood. In this study, we performed an integrated analysis of 23 public transcriptomic datasets encompassing both lesional and uninvolved skin samples from psoriasis patients. We defined comprehensive gene co-expression network models of psoriatic lesions and uninvolved skin. Moreover, we curated and exploited a wide range of functional information from multiple public sources in order to systematically annotate the inferred networks. The integrated analysis of transcriptomics data and co-expression networks highlighted genes that are frequently dysregulated and show aberrant patterns of connectivity in the psoriatic lesion compared with the unaffected skin. Our approach allowed us to also identify plausible, previously unknown, actors in the expression of the psoriasis phenotype. Finally, we characterized communities of co-expressed genes associated with relevant molecular functions and expression signatures of specific immune cell types associated with the psoriasis lesion. Overall, integrating experimental driven results with curated functional information from public repositories represents an efficient approach to empower knowledge generation about psoriasis and may be applicable to other complex diseases.Peer reviewe

O31 Integrative analysis reveals a molecular stratification of systemic autoimmune diseases

n/

Large scale-variability in otolith microstructure and microchemistry: The case study of Diplodus sargus sargus (Pisces: Sparidae) in the Mediterranean Sea

11 páginas.Pelagic larval duration (PLD) and trace elements in otoliths provide basic information to investigate the dispersal history of marine fishes. Due to the paucity of such information in the Mediterranean region, we assessed PLD, hatching and settlement duration and timing, and otolith microelemental composition of the White Sea bream (Diplodus sargus sargus) from multiple locations (hundreds of kilometers from each other) along the Italian coast (Mediterranean Sea). Otoliths were read to assess PLD and analyzed by a laser ablation inductively coupled plasma mass spectrometer in the core, larval and juvenile regions. PLD ranged from 14 to 17 days and significantly changed among locations, similarly to hatching (temporal windows of 10–24 days) and settlement (8–22 days) duration and timing, and microelemental fingerprints. These results show (1) a non-negligible large-scale variability in juvenile fish traits and otolith chemistry ever tested before for any Mediterranean fish; (2) the usefulness to properly estimate those traits and chemical features that may help shed light on spatial patterns of population connectivity and dispersal of marine fishes.Peer reviewe

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

Abstract In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a very young age (16 months). The latter, carrying the first de novo intragenic deletion so far reported in SPTBN2 gene, showed a mild cerebellar atrophy involving the hemispheres and a later onset. In both cases, for the first time, a hyperintense signal of the dentate nuclei was observed

Coping, stress and negative psychological outcomes in parents of children admitted to a pediatric neurorehabilitation care unit

BACKGROUND:Parents' attitudes and psychological adjustment during their child's hospitalization in a pediatric neurorehabilitation care unit are key aspects for the child's adherence to care and the impact of the disease. AIM:The aim of this study was to examine the relationship between parenting stress, coping style, and negative psychological outcomes in families of children admitted for the first time to a pediatric neurorehabilitation care unit. DESIGN:This is an observational study. SETTING:Pediatric neurorehabilitation care unit. POPULATION:One hundred twenty-four parents of children diagnosed with neurodevelopmental or neurological conditions. METHODS:Parents completed standardized questionnaires assessing parenting stress, coping style, anxiety and depressive symptoms. RESULTS:We found that parents of children with neurodevelopmental conditions showed more emotion-focused coping strategies (P=0.016) and depressive symptoms (P=0.01) compared with parents of children with neurological conditions. Hierarchical regression analyses showed that emotion- and avoidance-oriented coping style and socioeconomic status are crucial factors in the adjustment process of parents of children with neurodevelopmental conditions. By contrast, parenting stress and child difficulties were the most significant predictors of negative psychological outcomes in parents with neurological conditions. CONCLUSIONS:This study sought to develop more understanding of the relationship among parenting stress, coping, and anxiety or depressive symptoms in parent of children hospitalized in a pediatric neurorehabilitation care unit. We suggest that examining parents may increase our understanding of the interplay between child and parent functioning in families with children admitted for the first time to a pediatric neurorehabilitation care unit. CLINICAL REHABILITATION IMPACT:Identify these predictors might help professionals to develop screening procedures to identify parent at high risk for anxiety or depression, and to conduct early interventions to reduce uncertainty and maladaptive coping strategies that may influences rehabilitation process

High prevalence of epilepsy in a village in the Littoral Province of Cameroon

Purpose: In the Littoral Province of Cameroon, in the Sanaga River Valley, a door-to-door epidemiological study was carried out in order to evaluate the prevalence of epilepsy in a small village located in a geographically isolated area, hyper-endemic for onchocerciasis. It was followed by an electro-clinical evaluation of patients and a case-control study. Methods: The study involved a three-phases design: in phase I, a screening questionnaire was administered, in phase II, the presence of epilepsy was confirmed with electro-clinical evaluation, and in phase III, risk factors for epilepsy, socio-economical factors and life habits were evaluated in patients and two matched controls for the age (+/- 1 year) residents in the same village. Endemicity level of onchocerciasis was assessed in the village by measuring the prevalence of nodules in adult mates aged >= 20 years (PNAM). Results: One hundred eighty-one subjects (100 mate and 81 female) were examined (91.9% of the overall population). The crude prevalence rate of active epilepsy was 105 per 1000 pop (CI 95% 60-150) while the age-adjusted prevalence rate was 134.5 cases per 1000 pop (CI 95% 90-178). Seizures were classified as generalized in 10 patients (52.6%) and partial in nine (47.4%). In 17 patients EEG was recorded. Afterward the electro-clinical classification this distribution was inverted: generalized seizures occurred in 35.3% of cases and partial seizures in 64.7% of cases. The PNAM was 62.5%. The surveyed village was classified as hyper-endemic for onchocerciasis. Among risk factors, only positive family history for epilepsy was found (p=0.031). A sample pedigree of a family with 10 epileptic cases (4 included in the epidemiological study) was showed. Conclusions: To our knowledge, this is the first door-to-door study that produce an adjusted prevalence rate on epilepsy in Cameroon. In according to studies done in Tanzania, Liberia, Uganda, and Ethiopia, our results (i.e., the high prevalence rate in a restricted area, the clinical characteristics of epileptic seizures, the positive family history for epilepsy and the type of pedigree of a family with epileptic patients) may be accounted for by the presence of an strong interaction between environmental and genetic factors in some circumscribed areas. (C) 2008 Elsevier B.V. All rights reserved

Setting thresholds is not enough: Beach litter as indicator of poor environmental status in the southern Adriatic Sea

This study deals with the issue of beach litter pollution in the context of the Descriptor 10 of the Marine Strategy Framework Directive Good Environmental Status of EU waters and Ecological objective 10, Common indicator 22 of IMAP. Analyses of the amount, distribution and categorization of beach litter were conducted on nine beaches during 108 surveys covering the area of 206.620 m2 in Albania, Italy and Montenegro. Our findings showed that the level of beach litter pollution on south Adriatic beaches is significantly above the adopted threshold values, with a median item numbers of 327, 258 and 234 per 100 m of beach stretch for Albania, Italy and Montenegro, respectively. It can be concluded that, when it comes to beach litter pollution, GES has not been achieved. Given the defined baseline and threshold values at the EU level, the process of reducing the total amount of marine litter in southern Adriatic Sea will be very challenging and needs urgent and specific actions