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- Farnel, Sharon, et al.
(author)
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The decolonization of arctic library and archives metadata (DALAM) thematic network at the University of the Artic
- 2024
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In: Library and information sciences in arctic and northern studies. - Cham : Springer. - 9783031547140 - 9783031547171 - 9783031547157 ; , s. 25-39
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Book chapter (other academic/artistic)abstract
- In 2022, the Polar Libraries Colloquy created a thematic network within the University of the Arctic thematic network’s structure to address the decolonization of metadata. Metadata, including archival description, subject headings, and other descriptive terminology, sometimes includes terms that are offensive to Indigenous peoples, incorrect, or too general to be useful. The purpose of the Decolonization of Arctic Library and Archives Metadata (DALAM) thematic network is to create an alliance of librarians, archivists, and other information professionals working in metadata decolonization. The network, provisionally approved in 2022, focuses on member education and information as well as resource sharing with the goal of improving efficiencies in circumpolar metadata decolonization efforts. This chapter details the creation of DALAM, its purpose, and its future activities.
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| 2. |
- Helenius, K., et al.
(author)
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Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
- 2023
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In: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212. ; 66:5
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Journal article (peer-reviewed)abstract
- Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both the clinical presentation and location of the pathogenic variant on the TP63 gene. This division is complicated by significant overlap between syndromes.Here we describe a patient with clinical characteristics of different TP63-associated syndromes (cleft lip and palate, split feet, ectropion, erosions of the skin and corneas), associated with a de novo heterozygous pathogenic variant c.1681 T>C, p.(Cys561Arg) in exon 13 of the TP63 gene. Our patient also developed enlargement of the left-sided cardiac compartments and secondary mitral insufficiency, which is a novel finding, and immune deficiency, which has only rarely been reported. The clinical course was further complicated by prematurity and very low birth weight. We illustrate the overlapping features of EEC and AEC syndrome and multidisciplinary care needed to address the various clinical challenges.
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