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The purpose of this study is to define the unique research needs of creative communities as seen by the academic librarians supporting those communities. After surveying academic librarians, visual practice, information relating to the practice of a creative discipline, and inspiration were identified as unique research needs of these populations. Survey respondents also identified challenges to serving creative communities, including perceptions of library relevance, buy-in, and scheduling. While past literature has engaged with supporting specific creative disciplines, this study focuses on the collective research needs of creative communities. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusion Diabetes is increasing in prevalence worldwide, with a 20% rise in prevalence predicted between 2021 and 2030, bringing an increased burden of complications, such as diabetic kidney disease (DKD). DKD is a leading cause of end‐stage kidney disease, with significant impacts on patients, families and healthcare providers. DKD often goes undetected until later stages, due to asymptomatic disease, non‐standard presentation or progression, and sub‐optimal screening tools and/or provision. Deeper insights are needed to improve DKD diagnosis, facilitating the identification of higher‐risk patients. Improved tools to stratify patients based on disease prognosis would facilitate the optimisation of resources and the individualisation of care. This review aimed to identify how multiomic approaches provide an opportunity to understand the complex underlying biology of DKD.This review explores how multiomic analyses of DKD are improving our understanding of DKD pathology, and aiding in the identification of novel biomarkers to detect disease earlier or predict trajectories.Effective multiomic data integration allows novel interactions to be uncovered and empathises the need for harmonised studies and the incorporation of additional data types, such as co‐morbidity, environmental and demographic data to understand DKD complexity. This will facilitate a better understanding of kidney health inequalities, such as social‐, ethnicity‐ and sex‐related differences in DKD risk, onset and progression.Multiomics provides opportunities to uncover how lifetime exposures become molecularly embodied to impact kidney health. Such insights would advance DKD diagnosis and treatment, inform preventative strategies and reduce the global impact of this disease. [ABSTRACT FROM AUTHOR]

Objectives: Altered DNA methylation and microRNA profiles are associated with diabetic kidney disease. This study compared different sequencing approaches to define the genetic and epigenetic architecture of sequences surrounding microRNAs associated with diabetic kidney disease. Results: We compared Sanger and next generation sequencing to validate microRNAs associated with diabetic kidney disease identified from an epigenome-wide association study (EWAS). These microRNAs demonstrated differential methylation levels in cases with diabetic kidney disease compared to controls with long duration of type 1 diabetes and no evidence of kidney disease (Padjusted < 10-5). Targeted next generation sequencing analysis of genomic DNA and matched cell-line transformed DNA samples identified four genomic variants within the microRNAs, two within miR-329-2 and two within miR-429. Sanger sequencing of genomic DNA replicated these findings and confirmed the altered methylation status of the CpG sites identified by the EWAS in bisulphite-treated DNA. This investigation successfully fine-mapped the genetic sequence around key microRNAs. Variants have been detected which may affect their methylation status and methylated CpG sites have been confirmed. Additionally, we explored both the fidelity of next generation sequencing analysis and the potential efficacy of cell-line transformed DNA samples in place of finite patient samples in discovery genetic and epigenetic research. [ABSTRACT FROM AUTHOR]

As one of the longest-standing country mandates within the United Nations system of special procedures, the role of the Special Rapporteur on the Situation of Human Rights in Cambodia (formerly the Special Representative of the Secretary-General of the United Nations for Human Rights in Cambodia) is useful in demonstrating some of the practical limitations faced by country-specific special rapporteurs and representatives. This paper considers the scope and breadth of the Cambodian special procedures mandates and whether grave or systematic human rights violations have been effectively responded to, or whether many of the problems identified by successive mandate-holders have persisted. The paper goes on to address some of the practical limitations faced by country-specific rapporteurs, particularly in poorly resourced post-conflict societies and considers how those constraints might impede the fulfilment of a special procedures mandate. The paper finds that, despite their significant role in assisting Cambodia to establish the Extraordinary Chambers in the Courts of Cambodia (the Khmer Rouge Tribunal) and develop local laws to respond to a number of human rights concerns, many of the recommendations of successive mandate-holders have not been implemented in a meaningful way, or at all. Although a failure to promptly implement certain recommendations is to be expected in a post-conflict society, in many instances critical recommendations have not been acted upon, despite technical assistance and repeated reporting. This paper argues that the refinement of the mandate and the prompt escalation of outstanding recommendations within the UN may properly support the role of those mandate-holders and progress the objective of protecting and promoting human rights. [ABSTRACT FROM AUTHOR]

Objective The T-cell receptor β constant region 1 (TRBC1) antibody can identify T-cell clonality and distinguish pathological from normal T cells. This study aims to establish optimal cutpoints for establishing monotypia and validate the diagnostic abilities of the TRBC1 antibody when used as a reflex test in conjunction with an existing T-cell antibody panel. Materials and Methods We used 46 normal peripheral blood specimens and examined 8 patients with reactive lymphoproliferations to determine the normal biological range of TRBC1 on CD4+ and CD8+ T cells. We also evaluated 43 patient specimens that were submitted for investigation of a lymphoproliferative disorder for CD2/CD3/CD4/CD5/CD7/CD8/CD16/CD26/CD45/CD56/TCR αβ/TCR γδ, along with TRBC1 expression. The results were compared to TCR gene rearrangement patterns using polymerase chain reaction (PCR) analysis. Results Statistical analysis established differing cutoff points for establishing monotypia dependent on restricted TRBC1 or TRBC2 usage. Direct comparison with molecular analysis indicated that no specimen identified with the restricted expression of TRBC1 was reported as polyclonal by PCR with a concordance rate of 97% between a clonal PCR result and monotypic TRBC1 expression. Conclusion Incorporation of the TRBC1 antibody using statistically derived cutoff points in a reflex setting for the evaluation of a suspected T-cell neoplasm improves the identification of clonal T-cell populations by flow cytometry and correlates well with molecular methods. [ABSTRACT FROM AUTHOR]

Background: Chronic kidney disease (CKD) is a complex disorder that has become a high prevalence global health problem, with diabetes being its predominant pathophysiologic driver. Autosomal genetic variation only explains some of the predisposition to kidney disease. Variations in the mitochondrial genome (mtDNA) and nuclear-encoded mitochondrial genes (NEMG) are implicated in susceptibility to kidney disease and CKD progression, but they have not been thoroughly explored. Our aim was to investigate the association of variation in both mtDNA and NEMG with CKD (and related traits), with a particular focus on diabetes. Methods: We used the UK Biobank (UKB) and UK-ROI, an independent collection of individuals with type 1 diabetes mellitus (T1DM) patients. Results: Fourteen mitochondrial variants were associated with estimated glomerular filtration rate (eGFR) in UKB. Mitochondrial variants and haplogroups U, H and J were associated with eGFR and serum variables. Mitochondrial haplogroup H was associated with all the serum variables regardless of the presence of diabetes. Mitochondrial haplogroup X was associated with end-stage kidney disease (ESKD) in UKB. We confirmed the influence of several known NEMG on kidney disease and function and found novel associations for SLC39A13, CFL1, ACP2 or ATP5G1 with serum variables and kidney damage, and for SLC4A1, NUP210 and MYH14 with ESKD. The G allele of TBC1D32-rs113987180 was associated with higher risk of ESKD in patients with diabetes (OR:9.879; CI95%:4.440–21.980; P = 2.0E-08). In UK-ROI, AGXT2-rs71615838 and SURF1-rs183853102 were associated with diabetic nephropathies, and TFB1M-rs869120 with eGFR. Conclusions: We identified novel variants both in mtDNA and NEMG which may explain some of the missing heritability for CKD and kidney phenotypes. We confirmed the role of MT-ND5 and mitochondrial haplogroup H on renal disease (serum variables), and identified the MT-ND5-rs41535848G variant, along with mitochondrial haplogroup X, associated with higher risk of ESKD. Despite most of the associations were independent of diabetes, we also showed potential roles for NEMG in T1DM. [ABSTRACT FROM AUTHOR]

Background: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the explanation of genotypic and phenotypic heterogeneity, which may not be evident from single omic analyses.Main Body: This scoping review took a systematic approach to comprehensively search the electronic databases MEDLINE, EMBASE, PubMed, Web of Science, Scopus, Google Scholar, and the grey literature databases OpenGrey / GreyLit for journal articles pertaining to multi-omics and rare disease, written in English and published prior to the 30th December 2018. Additionally, The Cancer Genome Atlas publications were searched for relevant studies and forward citation searching / screening of reference lists was performed to identify further eligible articles. Following title, abstract and full text screening, 66 articles were found to be eligible for inclusion in this review. Of these 42 (64%) were studies of multi-omics and rare cancer, two (3%) were studies of multi-omics and a pre-cancerous condition, and 22 (33.3%) were studies of non-cancerous rare diseases. The average age of participants (where known) across studies was 39.4 years. There has been a significant increase in the number of multi-omic studies in recent years, with 66.7% of included studies conducted since 2016 and 33% since 2018. Fourteen combinations of multi-omic analyses for rare disease research were returned spanning genomics, epigenomics, transcriptomics, proteomics, phenomics and metabolomics.Conclusions: This scoping review emphasises the value of multi-omic analysis for rare disease research in several ways compared to single omic analysis, ranging from the provision of a diagnosis, identification of prognostic biomarkers, distinct molecular subtypes (particularly for rare cancers), and identification of novel therapeutic targets. Moving forward there is a critical need for collaboration of multi-omic rare disease studies to increase the potential to generate robust outcomes and development of standardised biorepository collection and reporting structures for multi-omic studies. [ABSTRACT FROM AUTHOR]

Simple Summary: Throughout the COVID-19 pandemic, many cancer care services have safely been delivered via telehealth. Multi-disciplinary rehabilitation programmes can help address the complex physical, nutritional and quality of life needs of upper gastrointestinal (UGI) cancer survivors, but it is unknown how well these multi-component programmes translate to a telehealth model of delivery. Therefore, we assessed the feasibility of running a 12-week exercise and nutrition rehabilitation programme for UGI cancer via telehealth. Participants found the telehealth model safe, convenient and highly satisfactory. Lower levels of technology skills were a barrier to recruitment, and some participants needed help with using the technology. Some adaptations to how the exercise programme was delivered were required. Participants recommended that future versions of the programme would have some element of in-person contact. Cancer survivors should receive all possible supports to enable their participation in telehealth programmes. Background: Telehealth has enabled access to rehabilitation throughout the pandemic. We assessed the feasibility of delivering a multi-disciplinary, multi-component rehabilitation programme (ReStOre@Home) to cancer survivors via telehealth. Methods: This single-arm mixed methods feasibility study recruited participants who had completed curative treatment for oesophago-gastric cancer for a 12-week telehealth rehabilitation programme, involving group resistance training, remotely monitored aerobic training, one-to-one dietetic counselling, one-to-one support calls and group education. The primary outcome was feasibility, measured by recruitment rates, attendance, retention, incidents, acceptability, Telehealth Usability Questionnaire (TUQ) and analysis of semi-structured interviews. Results: Characteristics of the twelve participants were: 65.42 ± 7.24 years; 11 male; 10.8 ± 3.9 months post-op; BMI 25.61 ± 4.37; received neoadjuvant chemotherapy 7/12; received adjuvant chemotherapy 4/12; hospital length of stay 16 days (median). Recruitment rate was 32.4%, and retention rate was 75%. Mean attendance was: education 90%; dietetics 90%; support calls 84%; resistance training 78%. Mean TUQ score was 4.69/5. Adaptations to the planned resistance training programme were required. Participants reported that ReStOre@Home enhanced physical and psychological wellbeing, and online delivery was convenient. Some reported a preference for in-person contact but felt that the online group sessions provided adequate peer support. Conclusion: Telehealth delivery of ReStOre@Home was most feasible in individuals with moderate to high levels of digital skills. Low level of digitals skills was a barrier to recruitment and retention. Participants reported high levels of programme adherence and participant satisfaction. Adaptations to future programmes, including introducing elements of in-person contact, are required. [ABSTRACT FROM AUTHOR]

Background: Biologically active vitamin D has an important regulatory role within the genome. It binds the vitamin D receptor (VDR) in order to control the expression of a wide range of genes as well as interacting with the epigenome to modify chromatin and methylation status. Vitamin D deficiency is associated with several human diseases including end-stage renal disease. Methods: This article describes the design and testing of a custom, targeted next generation sequencing (NGS) panel for selected vitamin D associated genes. Sequencing runs were used to determine the effectiveness of the panel for variant calling, to compare efficiency and data across different sequencers, and to perform representative, proof of principle association analyses. These analyses were underpowered for significance testing. Amplicons were designed in two pools (163 and 166 fragments respectively) and used to sequence two cohorts of renal transplant recipients on the Ion Personal Genome Machine (PGM)™ and Ion S5™ XL desktop sequencers. Results: Coverage was provided for 43.8 kilobases across seven vitamin D associated genes (CYP24A1, CUBN, VDR, GC, NADSYN1, CYP27B1, CYP2R1) as well as 38 prioritised SNPs. Sequencing runs provided sufficient sequencing quality, data output and validated the effective library preparation and panel design. Conclusions: This novel, custom-designed, validated panel provides a fast, cost effective, and specific approach for the analysis of vitamin D associated genes in a wide range of patient cohorts. This article does not report results from a controlled health-care intervention. [ABSTRACT FROM AUTHOR]