DiSSCo Prepare WP7 –D7.3 Assessment tools and direction map to the implementation of common DiSSCo policies

The Distributed System for Scientific Collections (DiSSCo) Research Infrastructure will operate a number of e-services, all of which will have policy requirements for participating institutions. These policies include those related to digital and physical access to specimens, digital image and specimen metadata, and FAIR / Open Data. Previous projects have shown that the policy landscape is complex, and Task 7.3 has developed a policy self-assessment tool that will allow DiSSCo to assess policy alignment across the consortium. This deliverable describes the development of the policy self-assessment tool and provides a walkthrough of the key features. The same technical framework was used to create a digital maturity tool, which was initially proposed by Task 3.1, and this is also described within this document. A set of recommendations are included that outline the future direction for the development of the policy tool.The Distributed System for Scientific Collections (DiSSCo) Research Infrastructure will operate a number´of e-services, all of which will have policy requirements for participating institutions. These policies include those related to digital and physical access to specimens, digital image and specimen metadata, and FAIR / Open Data. Previous projects have shown that the policy landscape is complex, and Task 7.3 has developed a policy self-assessment tool that will allow DiSSCo to assess policy alignment across the consortium. This deliverable describes the development of the policy self-assessment tool and provides a walkthrough of the key features. The same technical framework was used to create a digital maturity tool, which was initially proposed by Task 3.1, and this is also described within this document. A set of recommendations are included that outline the future direction for the development of the policy tool

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

Associations between mild-to-moderate anaemia in pregnancy and helminth, malaria and HIV infection in Entebbe, Uganda.

It is suggested that helminths, particularly hookworm and schistosomiasis, may be important causes of anaemia in pregnancy. We assessed the associations between mild-to-moderate anaemia (haemoglobin >8.0 g/dl and <11.2 g/dl) and helminths, malaria and HIV among 2507 otherwise healthy pregnant women at enrolment to a trial of deworming in pregnancy in Entebbe, Uganda. The prevalence of anaemia was 39.7%. The prevalence of hookworm was 44.5%, Mansonella perstans 21.3%, Schistosoma mansoni 18.3%, Strongyloides 12.3%, Trichuris 9.1%, Ascaris 2.3%, asymptomatic Plasmodium falciparum parasitaemia 10.9% and HIV 11.9%. Anaemia showed little association with the presence of any helminth, but showed a strong association with malaria (adjusted odds ratio (AOR) 3.22, 95% CI 2.43-4.26) and HIV (AOR 2.46, 95% CI 1.90-3.19). There was a weak association between anaemia and increasing hookworm infection intensity. Thus, although highly prevalent, helminths showed little association with mild-to-moderate anaemia in this population, but HIV and malaria both showed a strong association. This result may relate to relatively good nutrition and low helminth infection intensity. These findings are pertinent to estimating the disease burden of helminths and other infections in pregnancy. [Clinical Trial No. ISRCTN32849447]

Current CD4 cell count and the short-term risk of AIDS and death before the availability of effective antiretroviral therapy in HIV-infected children and adults.

BACKGROUND: Currently, there are no comparable estimates of the short-term risk of disease progression in the absence of effective antiretroviral therapy for human immunodeficiency virus (HIV)-infected adults and children. METHODS: A joint analysis of 2 large studies of children with vertically acquired HIV infection (the HIV Paediatric Prognostic Markers Collaborative Study) and adults with seroconversion (the CASCADE [Concerted Action on Sero-Conversion to AIDS and Death in Europe] collaboration) was conducted. Follow-up was censored at the end of 1995, before the introduction of combination antiretroviral therapy. The incidence rates of death and AIDS or death (AIDS/death) were estimated on the basis of age and current CD4 cell count. RESULTS: A total of 1260 deaths (over 20,500 person-years of follow-up) and 1894 initial AIDS events (over 17,200 person-years of follow-up) were observed among 6741 patients (3244 children [i.e., patients or = 5 years of age

Advancing the Catalogue of the World’s Natural History Collections

Information about natural history collections helps to map the complex landscape of research resources and assists researchers in locating and contacting the holders of specimens. Collection records contribute to the development of a fully interlinked biodiversity knowledge graph (Page 2016), showcasing the existence and importance of museums and herbaria and supplying context to available data on specimens. These records also potentially open new avenues for fresh use of these collections and for accelerating their full availability online.A number of international (e.g., Index Herbariorum, GRSciColl) regional (e.g. DiSSCo and CETAF) national (e.g., ALA and the Living Atlases, iDigBio US Collections Catalog) and institutional networks (e.g., The Field Museum) separately document subsets of the world's collections, and the Biodiversity Information Standards (TDWG) Collection Descriptions Interest Group is actively developing standards to support information sharing on collections. However, these efforts do not yet combine to deliver a comprehensive and connected view of all collections globally.The Global Biodiversity Information Facility (GBIF) received funding as part of the European Commission-funded SYNTHESYS+ 7 project to explore development of a roadmap towards delivering such a view, in part as a contribution towards the establishment of DiSSCo services within a global ecosystem of collection catalogues. Between 17 and 29 April 2020, a coordination team comprising international representatives from multiple networks ran Advancing the Catalogue of the World’s Natural History Collections, a fully online consultation using the GBIF Discourse forum platform to guide discussion around 26 consultation topics identified in an initial Ideas Paper (Hobern et al. 2020). Discussions included support for contributions in Spanish, Chinese and French and were summarised daily throughout the consultation.The consultation confirmed broad agreement around the needs and goals for a comprehensive catalogue of the world’s natural history collections, along with possible strategies to overcome the challenges. This presentation will summarise the results and recommendations

Poverty, life events and the risk for depression in Uganda.

BACKGROUND: Understanding the determinants of major depression in sub-Saharan Africa is important for planning effective intervention strategies. OBJECTIVE: To investigate the social and life-event determinants of major depressive disorder in the African sociocultural context of rural Uganda. METHODS: A cross-section survey was carried out in 14 districts in Uganda from 1 June 2003 to 30 October 2004. 4,660 randomly selected respondents (15 years and above) were interviewed. The primary outcome was the presence of 'probable major depressive disorder' (PMDD) as assessed by the Hopkins symptom checklist. RESULTS: The prevalence of PMDD was 29.3% (95% confidence interval, 28.0-30.6%). Factors independently associated with depression in both genders included: the ecological factor, district; age (increase with each age category after 35 years); indices of poverty and deprivation (no formal education, having no employment, broken family, and socioeconomic classes III-V). Only a few adverse life events, notably those suggestive of a disrupted family background (death of a father in females and death of a mother in males) were associated with increased risk. CONCLUSION: Socioeconomic and sociodemographic factors, operating at both ecological and the individual level are the strongest independent determinants of depression. Adverse life events were less strongly associated with depression in this sample

Quantitation of motexafin lutetium in human plasma by liquid chromatography-tandem mass spectrometry and inductively coupled plasma-atomic emission spectroscopy

Liquid chromatography-tandem mass spectrometry (LC-MS/MS) and inductively coupled plasma-atomic emission spectroscopy (ICP-AES) methods were developed and validated for the evaluation of motexafin lutetium (MLu, lutetium texaphyrin, PCI-0123) pharmacokinetics in human plasma. The LC-MS/MS method was specific for MLu, whereas the ICP-AES method measured total elemental lutetium. Both methods were fast, simple, precise, and accurate. For the LC-MS/MS method, a closely related analogue (PCI-0353) was used as the internal standard (IS). MLu and the IS were extracted from plasma by protein precipitation and injected onto and LC-MS/MS system configured with a C18 column and an electrospray interface. The lower limit of quantitation was 0.05 μg MLu mL−1, with a signal-to-noise ratio of 15∶1. The response was linear from 0.05 to 5.0 μg MLu mL−1. For the ICP-AES method, indium was used as the IS. The sample was digested with nitric acid, diluted, filtered, and then injected onto the ICP-AES system. Two standard curve ranges were validated to meet the expected range of sample concentrations: 0.5 to 50, and 0.1 to 10 μg Lu mL−1. The LC-MS/MS and ICP-AES methods were validated to establish accuracy, precision, analyte stability, and assay robustness. Interday precision and accuracy of quality control samples were ≤6.3% coefficient of variation (CV) and within 2.2% relative error (RE) for the LC-MS/MS method, and ≤8.7% CV and within 4.9% RE for the ICP-AES method. Plasma samples from a subset of patients in a clinical study were analyzed using both methods. For a representative patient, over 90% of the elemental lutetium in plasma could be ascribed to intact MLu at early time points. This percentage decreased to 59% at 48 hours after dosing, suggesting that some degradation and/or metabolism of the drug may have occurred

Systematic Design of a Natural Sciences Collections Digitisation Dashboard

This paper describes the design and build of a pilot Natural Sciences Collections Digitisation Dashboard (CDD). The CDD will become a key service for the Distributed System of Scientific Collections Research Infrastructure (DiSSCo) and aims to improve the discoverability of natural science collections (NSCs) held in European institutions, both digitised and undigitised. Furthermore, it will serve as a dynamic visual assessment tool for strategic decision-making, including the prioritisation of digitisation. The CDD pilot includes high-level information from nine European NSCs, covering the number of objects, taxonomic scope, storage type, chronostratigraphy (Earth Science Collections), geographical region and level of detail in digitisation. This information is structured through a standardised Collection Classification Scheme, which uses high-level categorisation to describe physical natural science collections