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240 + 1G &gt; A; two missense mutations, p.R88P and p.G94D; a large deletion of exon 1 to exon 7; and one nonsense mutation, p.Q396*. In addition, two novel alterations were identified in the MPS II patients one frame shift mutation, p.D450Nfs*95 and one nonsense mutation, p.Q204*. Additionally, five known IDS polymorphisms were identified in the patients c.419-16 delT, c.641C &gt; T (p.T214M), c.438 C &gt; T (p.T146T), c.709-87G &gt; A, and c.1006 + 38 T &gt; C. Conclusions The high level of urine GAGs and the deficiency of iduronate 2-sulfatase activity was associated with the phenotype expression of Hunter syndrome. Molecular testing was useful for the patients' phenotypic classification and the detection of carriers.Background Obesity is becoming an important public health challenge, especially among immigrants coming from low and middle income to high-income countries. In this study we examined the relationship between overweight/obesity and various socio-demographic indicators among different immigrant groups in Norway. Methods We used data from the Living Conditions Survey among Immigrants 2016, conducted by Statistics Norway. Our study sample included 4194 immigrants from 12 different countries. Participants were asked about a number of topics including health, weight, height, demographic factors, length of residence and employment. We ran logistic regression analysis to determine the odds ratio (OR) of the associations between socio-demographic factors with adiposity among immigrants. Results Approximately 53% of the sample was overweight/obese. There was a significant difference in overweight/obesity by gender, age, country of origin and marital status. Overall immigrant men were almost 52% more likely to be overweleading to obesity among certain immigrant groups in Norway. Moreover, there is a need for culturally adapted prevention strategies targeting immigrant men and women with high rates of overweight/obesity.Background GenBank contains over 3 million viral sequences. The National Center for Biotechnology Information (NCBI) previously made available a tool for validating and annotating influenza virus sequences that is used to check submissions to GenBank. Before this project, there was no analogous tool in use for non-influenza viral sequence submissions. Results We developed a system called VADR (Viral Annotation DefineR) that validates and annotates viral sequences in GenBank submissions. The annotation system is based on the analysis of the input nucleotide sequence using models built from curated RefSeqs. Hidden Markov models are used to classify sequences by determining the RefSeq they are most similar to, and feature annotation from the RefSeq is mapped based on a nucleotide alignment of the full sequence to a covariance model. Predicted proteins encoded by the sequence are validated with nucleotide-to-protein alignments using BLAST. The system identifies 43 types of "alerts" that (unlike the previous BLASTprior to submitting their viral sequences, and thereby gain confidence that their submissions will be accepted immediately without the need to correspond with GenBank staff. Reciprocally, the adoption of VADR frees GenBank staff to spend more time on services other than checking routine viral sequence submissions.Background The Xpert MTB/RIF assay is an automated molecular test that is designed to simultaneously detect Mycobacterium tuberculosis (MTB) complex and rifampin resistance. However, there are relatively few studies on this method in China. Xpert has been routinely used at Peking University People's Hospital (PKUPH) since November 2016. Thus, the aim of this study was to evaluate the performance of Xpert, and provide a reference and guidance for the detection and diagnosis of TB in non-TB specialized hospitals. Methods The medical records of inpatients simultaneously tested with Xpert, acid-fast bacilli (AFB) smear microscopy, and interferon-gamma release assay (IGRA, by T-SPOT®.TB) at PKUPH from November 2016 to October 2018 were reviewed. Active TB cases were considered according to a composite reference standard (CRS). Then, the three methods were evaluated and compared. Results In total, 787 patients simultaneously tested with Xpert, AFB, and IGRA were enrolled; among them 11.3% (89/787) were diagnosed anh specificity, and suggested its high value in TB diagnosis; however, the application of pleural fluid is still limited, and should be improved. Owing to the high sensitivity of IGRA, it is recommended for use as a supplementary test, especially for assisting in the diagnosis of TP and EPTB.Background Semantic resources such as knowledge bases contains high-quality-structured knowledge and therefore require significant effort from domain experts. Using the resources to reinforce the information retrieval from the unstructured text may further exploit the potentials of such unstructured text resources and their curated knowledge. Results The paper proposes a novel method that uses a deep neural network model adopting the prior knowledge to improve performance in the automated extraction of biological semantic relations from the scientific literature. The model is based on a recurrent neural network combining the attention mechanism with the semantic resources, i.e., UniProt and BioModels. Our method is evaluated on the BioNLP and BioCreative corpus, a set of manually annotated biological text. The experiments demonstrate that the method outperforms the current state-of-the-art models, and the structured semantic information could improve the result of bio-text-mining. Conclusion The experiment results show that our approach can effectively make use of the external prior knowledge information and improve the performance in the protein-protein interaction extraction task. The method should be able to be generalized for other types of data, although it is validated on biomedical texts.Background Assessing public opinion towards tobacco policies is important, particularly when determining the possible direction of future public health policies. The aim of this study was to describe the implementation of tobacco retailer licensing systems by state and territory governments in Australia, and to use the National Drug Strategy Household Survey (NDSHS) to assess levels of public support for a retailer licensing system in each jurisdiction over time and by a range of socio-demographic and behavioural attributes. [https://www.selleckchem.com/products/sch-527123.html Selleck SCH-527123] Methods National and state/territory estimates of public support for a tobacco retailer licensing system were derived as proportions using NDSHS data from 2004 to 2016. The effect of one's jurisdiction of residence on the likelihood of supporting such an initiative in 2016 was assessed using logistic regression while controlling for various socio-demographic and behavioural characteristics. Results Public support for a tobacco retailer licensing system ranged from a high of 67.2% (95% CI 66.