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| 2. |
- Davis, B, et al.
(författare)
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Voices of chemical biology
- 2021
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Ingår i: Nature chemical biology. - : Springer Science and Business Media LLC. - 1552-4469 .- 1552-4450. ; 17:1, s. 1-4
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Deans, Andrew R, et al.
(författare)
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Finding Our Way through Phenotypes.
- 2015
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Ingår i: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility.
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| 4. |
- Deans, R., et al.
(författare)
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The first Australian uterus transplantation procedure: A result of a long-term Australian-Swedish research collaboration
- 2023
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Ingår i: Australian & New Zealand Journal of Obstetrics & Gynaecology. - 0004-8666.
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Tidskriftsartikel (refereegranskat)abstract
- AimsThe aim is to report the results of Australia's first uterus transplantation (UTx). MethodsFollowing long-standing collaboration between the Swedish and Australian teams, Human Research Ethics approval was obtained to perform six UTx procedures in a collaborative multi-site research study (Western Sydney Local District Health 2019/ETH13038), including Royal Hospital for Women, Prince of Wales Hospital, and Westmead Hospital in New Souh Wales. Surgeries were approved in both the live donor (LD) and deceased donor models in collaboration with the inaugural Swedish UTx team. ResultsThis is the first UTx procedure to occur in Australia, involving a mother donating her uterus to her daughter. The total operative time for the donor was 9 h 54 min. Concurrently, recipient surgery was synchronised to minimise graft ischaemic time, and the total operative time for the recipient was 6 h 12 min. Surgery was by laparotomy in the LD and recipient. The total warm ischaemic time of the graft was 1 h 53 min, and the cold ischaemic time was 2 h 17 min (total ischaemic time 4 h 10 min). The patient's first menstruation occurred 33 days after the UTx procedure. ConclusionTwenty-five years of Swedish and Australian collaboration has led to Australia's first successfully performed UTx surgery at The Royal Hospital for Women, Sydney, Australia.
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| 6. |
- Martin, Lisa, et al.
(författare)
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Diagnostic Criteria for the Classification of Cancer-Associated Weight Loss.
- 2015
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Ingår i: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. - 1527-7755. ; 33:1, s. 90-99
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Tidskriftsartikel (refereegranskat)abstract
- Existing definitions of clinically important weight loss (WL) in patients with cancer are unclear and heterogeneous and do not consider current trends toward obesity.
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| 8. |
- Pittman, J., et al.
(författare)
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Deceased donor availability for uterus transplantation in Australia
- 2023
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Ingår i: Australian & New Zealand Journal of Obstetrics & Gynaecology. - 0004-8666. ; 63:6, s. 780-785
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundUterus transplantation is an emerging treatment option for uterine factor infertility. Most uterus transplantation research programs use living donors, although this comes with considerable surgical and psychological risks and not all women desiring uterus transplantation will have an available living donor. A deceased donor program eliminates donor risks; however, the availability of deceased uterus donors is currently unknown in Australia. AimsTo establish the feasibility of a deceased donor uterus transplantation program in Australia and consider expanded inclusion criteria for this model. Materials and MethodsA retrospective review of the New South Wales (NSW) Organ and Tissue Donation Service database was undertaken to identify potential deceased uterus donors, with comparison to the broad deceased donor inclusion criteria from three international uterus transplantation trials including female, brain-dead, multi-organ donation, no major abdominal surgery, and Between January 1, 2018, and December 31, 2022, 648 deceased donors were available in NSW. Of these, 43% (279/648) were female and 67% of the women (187/279) were also multi-organ donors. When the brain-dead donor-only and age criteria (<60 years) were applied, a total of 107 deceased donors met the available criteria for uterus transplantation, with an average of 21 deceased donors per year in NSW. ConclusionsThere appears to be adequate deceased donor organ availability to establish a deceased uterus transplantation program in NSW, Australia. Should interest in uterus transplantation increase, including criteria such as older and nulliparous donors could increase organ availability for a uterus transplantation program.
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| 9. |
- Pittman, J., et al.
(författare)
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Medical work-up of the recipient
- 2019
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Ingår i: Uterus Transplantation. Brännström, M. (red.). - Cham : Springer. - 9783319941622 ; , s. 73-78
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- A successful result following uterus transplantation is naturally evidenced by a resulting live birth. Whilst the critical factors when screening the donor have been shown to be uterine graft quality and adequate vasculature, there are several essential factors associated with the recipient that are associated with the chances of success. This chapter reviews the current knowledge around which medical factors must be taken into account when screening for inclusion and exclusion of potential recipients. Lifestyle factors, anatomical variations, ovarian function and laboratory and imaging studies will be covered in this chapter. © Springer Nature Switzerland AG 2020.
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| 10. |
- Souche, E, et al.
(författare)
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Recommendations for whole genome sequencing in diagnostics for rare diseases
- 2022
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:109, s. 1017-1021
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Tidskriftsartikel (refereegranskat)abstract
- In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.
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