Motivation:The NHGRI Catalog of Published Genome-Wide Association Studies (GWAS) Catalog has collected, curated, and made available data from over 3 900 studies. The recently developed GWAS Catalog REST API is the only method allowing programmatic access to this resource. Results: Here, we describe gwasrapidd, an R package that provides a client interface to the GWAS Catalog REST API, representing an important software counterpart to the server-side component. gwasrapidd enables users to quickly retrieve, filter and integrate data with comprehensive bioinformatics analysis tools, which is particularly critical for those looking into functional characterisation of risk loci. Availability: gwasrapidd is freely available under an MIT License, and can be accessed from https://github.com/ramiromagno/gwasrapidd. 130 possibility in gwasrapidd, we map EFO identifiers (efo id) to EFO traits with 131 get traits() using the former as a search parameter. The table traits of the S4 132 object traits contains the trait column, providing a one-to-one mapping between each 133 EFO identifier and its trait description (trait). Then, we use internally 134 get variants() to search by EFO trait description (efo trait). 135 Finally, gwasrapidd also provides a set of helper functions to easily browse linked 136 web resources, such as PubMed [11] , dbSNP [12],and GTEx project [13]. 137 Limitations 138The most popular method of access to the Catalog is still the web graphical user 139 interface (GUI), and is therefore still the one that gets more attention and dedication 140 from the GWAS Catalog team. Thus, compared to the web GUI, the REST API is still 141 lagging behind in functionality. Here we discuss some of the limitations of the REST 142 API compared to the web GUI. 143When searching by publication related information, with the REST API, we can 144 only use the PubMed identifier as a query. Thus, to search using other publication 145 related criteria, such as words in the title or date of publication, one needs to download 146 6/9
The present study was triggered by the need to find technological solutions to promote the inclusion of a child with cerebral palsy in the Arts Education Programmes of Music in Portugal. With this purpose, a Ph.D. student, together with an ICT Resources Center, conducted an exploratory study, which included a systematic review of literature, between the years 2017 and 2020, with the keyword "accessible digital musical instruments" in different databases. A search on Google search engine was also performed, looking for accessible music apps and online music games available on the Web. As a result, a set of accessible digital musical instruments, music apps and online music games, that can be used to facilitate the access of children and young people with special needs to the teaching and learning of music, is presented. In the conclusions, reference is made to the topicality of this theme, the expensive cost and lack of access to accessible digital musical instruments that still exists, the need for further studies on this theme, and the importance of training those involved in the use of these resources, thus promoting "music for all".
Introduction: Methotrexate is an essential drug in the treatment of children with acute lymphoblastic leukemia. A complication of methotrexate includes neurotoxicity-it presents with signs and symptoms ranging from headache to strokelike symptoms. Case report: An 11-year-old girl with lymphoblastic lymphoma, who presented a history of leukoencephalopathy, which mimicked stroke one week after receiving high doses of intravenous methotrexate. The patient's symptoms completely improved within two days without sequels. Ten days after a new administration of methotrexate presented right-side hemiparesis and dysarthria. Again, with full resolution. Brain magnetic resonance scan was indispensable for diagnosis. The patient was discharged home without neurological symptoms. Conclusions: Neurotoxicity associated with methotrexate is transient and most patients continue to receive this therapy without intercurrences. It is important that healthcare professionals recognize this entity.
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