668 research outputs found

    Stereotypies in the autism spectrum disorder: Can we rely on an ethological model?

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    Background: Stereotypic behaviour can be defined as a clear behavioural pattern where a specific function or target cannot be identified, although it delays on time. Nonetheless, repetitive and stereotypical behaviours play a key role in both animal and human behaviour. Similar behaviours are observed across species, in typical human developmental phases, and in some neuropsychiatric conditions, such as Autism Spectrum Disorder (ASD) and Intellectual Disability. This evidence led to the spread of animal models of repetitive behaviours to better understand the neurobiological mechanisms underlying these dysfunctional behaviours and to gain better insight into their role and origin within ASD and other disorders. This, in turn, could lead to new treatments of those disorders in humans. Method: This paper maps the literature on repetitive behaviours in animal models of ASD, in order to improve understanding of stereotypies in persons with ASD in terms of characterization, pathophysiology, genomic and anatomical factors. Results: Literature mapping confirmed that phylogenic approach and animal models may help to improve understanding and differentiation of stereotypies in ASD. Some repetitive behaviours appear to be interconnected and mediated by common genomic and anatomical factors across species, mainly by alterations of basal ganglia circuitry. A new distinction between stereotypies and autotypies should be considered. Conclusions: Phylogenic approach and studies on animal models may support clinical issues related to stereotypies in persons with ASD and provide new insights in classification, pathogenesis, and management

    Head-to-head comparison between F-18-DOPA PET/CT and Ga-68-DOTA-peptide PET/CT in detecting intestinal neuroendocrine tumours:A systematic review and meta-analysis

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    Objective: The imaging of intestinal neuroendocrine tumours (NETs) relies on functional PET tracers; these tumours can be studied by means of both Ga-68-DOTA-peptides and F-18-DOPA PET/CT. As yet, it is unclear which of these two modalities offers the better sensitivity. We therefore conducted a meta-analysis to assess the available data. Design: PubMed, CENTRAL, Scopus and Web of Science were searched for studies comparing the sensitivity of Ga-68-DOTA-peptides and F-18-DOPA PET/CT; papers up to February 2021 were considered. Patients and Measurements: In each study, we considered sensitivity in terms of patient-based (PBA), region-based (RBA) and lesion-based analysis (LBA) and pooled the results yielded by each tracer. Multidisciplinary follow-up served as the standard of truth. Results: Of the 636 records identified, 6 articles published between 2008 and 2021 were finally selected, and 112 intestinal NET patients were included. The pooled sensitivity of F-18-DOPA PET/CT was 83%, 89% and 95% on PBA, RBA and LBA, respectively. Ga-68-DOTA peptide PET/CT showed sensitivity of 88%, 92% and 82% on PBA, RBA and LBA, respectively. No significant differences were found between the two tracers on PBA and RBA. By contrast, a clear trend towards significance in favour of F-18-DOPA PET/CT was identified on LBA. The presence of a significant difference in favour of F-18-DOPA PET/CT was confirmed in a subgroup analysis conducted only on the most recent and largest studies. In all three analyses, mild-to-high heterogeneity was found, while no publication bias was observed. Conclusion: Both F-18-DOPA PET/CT and Ga-68-DOTA-peptide PET/CT are reliable diagnostic procedures in patients with intestinal NETs. However, in terms of lesion detection, a non-negligible difference in favour of F-18-DOPA PET/CT was observed. Thus, the use of F-18-DOPA PET/CT could be considered as a first-line molecular procedure in intestinal NETs

    Provider-specific quality measurement for ERCP using natural language processing

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    Background and Aims Natural language processing (NLP) is an information retrieval technique that has been shown to accurately identify quality measures for colonoscopy. There are no systematic methods by which to track adherence to quality measures for ERCP, the highest risk endoscopic procedure widely used in practice. Our aim was to demonstrate the feasibility of using NLP to measure adherence to ERCP quality indicators across individual providers. Methods ERCPs performed by 6 providers at a single institution from 2006 to 2014 were identified. Quality measures were defined using society guidelines and from expert opinion, and then extracted using a combination of NLP and data mining (eg, ICD9-CM codes). Validation for each quality measure was performed by manual record review. Quality measures were grouped into preprocedure (5), intraprocedure (6), and postprocedure (2). NLP was evaluated using measures of precision and accuracy. Results A total of 23,674 ERCPs were analyzed (average patient age, 52.9 ± 17.8 years, 14,113 were women [59.6%]). Among 13 quality measures, precision of NLP ranged from 84% to 100% with intraprocedure measures having lower precision (84% for precut sphincterotomy). Accuracy of NLP ranged from 90% to 100% with intraprocedure measures having lower accuracy (90% for pancreatic stent placement). Conclusions NLP in conjunction with data mining facilitates individualized tracking of ERCP providers for quality metrics without the need for manual medical record review. Incorporation of these tools across multiple centers may permit tracking of ERCP quality measures through national registries

    NGS transcriptomic analysis uncovers the possible resistance mechanisms of olive to Spilocea oleagina leaf spot infection

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    Spilocea oleagina is a dangerous obligate fungal pathogen of olive, feared in the Mediterranean countries, causing Peacock's eye or leaf spot infection, which can lead to a serious yield loss of approximately 20% or higher depending on climatic conditions. Coping with this disease is much more problematic for organic farms. To date, knowledge on the genetic control of possible mechanisms of resistance/low susceptibility is quite limited. In this work, comparative transcriptomic analysis (RNA-seq) was conducted in leaf tissues of a low susceptible cultivar Koroneiki and a high susceptible cultivar Nocellara del Belice, both tested in the field using the NaOH test, considering two stages-"zero sign of disease" and "evident sign of infection". Cultivars showed a very large number of differentially expressed genes (DEGs) in both stages. 'Koroneiki' showed an extensive hormonal crosstalk, involving Abscisic acid (ABA) and ethylene synergistically acting with Jasmonate, with early signaling of the disease and remarkable defense responses against Spilocea through the over-expression of many resistance gene analogs or pathogenesis-related (PR) genes: non-specific lipid-transfer genes (nsLTPs), LRR receptor-like serine/threonine-protein kinase genes, GDSL esterase lipase, defensin Ec-AMP-D2-like, pathogenesis-related leaf protein 6-like, Thaumatin-like gene, Mildew resistance Locus O (MLO) gene, glycine-rich protein (GRP), MADS-box genes, STH-21-like, endochitinases, glucan endo-1,3-beta-glucosidases, and finally, many proteinases. Numerous genes involved in cell wall biogenesis, remodeling, and cell wall-based defense, including lignin synthesis, were also upregulated in the resistant cultivar, indicating the possible role of wall composition in disease resistance. It was remarkable that many transcription factors (TS), some of which involved in Induced Systemic Resistance (ISR), as well as some also involved in abiotic stress response, were found to be uniquely expressed in 'Koroneiki', while 'Nocellara del Belice' was lacking an effective system of defense, expressing genes that overlap with wounding responses, and, to a minor extent, genes related to phenylpropanoid and terpenoid pathways. Only a Thaumatin-like gene was found in both cultivars showing a similar expression. In this work, the genetic factors and mechanism underlying the putative resistance trait against this fungal pathogen were unraveled for the first time and possible target genes for breeding resistant olive genotypes were found
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