| 1. |
- Garnier, Nicolas, et al.
(författare)
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Genetic newborn screening and digital technologies : A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
- 2023
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:11
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Tidskriftsartikel (refereegranskat)abstract
- Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.
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| 2. |
- Aro, Rudolf, 1992-, et al.
(författare)
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Calibration and Uncertainty Estimation for Water Content Measurement in Solids
- 2021
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Ingår i: International journal of thermophysics. - : Springer. - 0195-928X .- 1572-9567. ; 42:3
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Tidskriftsartikel (refereegranskat)abstract
- In the field of water content measurement, the calibration of coulometric methods (e.g., coulometric Karl Fischer titration or evolved water vapor analysis) is often overlooked. However, as coulometric water content measurement methods are used to calibrate secondary methods, their results must be obtained with the highest degree of confidence. The utility of calibrating such instruments has been recently demonstrated. Both single and multiple point calibration methods have been suggested. This work compares these calibration methods for the evolved water vapor analysis technique. Two uncertainty estimation approaches (Kragten's spreadsheet and M-CARE software tool) were compared as well, both based on the ISO GUM method.
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| 3. |
- Aro, Rudolf, 1992-, et al.
(författare)
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Moisture in Solids : Comparison Between Evolved Water Vapor and Vaporization Coulometric Karl Fischer Methods
- 2020
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Ingår i: International journal of thermophysics. - : Springer. - 0195-928X .- 1572-9567. ; 41:8
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Tidskriftsartikel (refereegranskat)abstract
- Moisture content can affect the thermo-physical properties of many materials. Thus sufficient knowledge of this parameter is required to improve product shelf life and quality, reduce waste or enhance process efficiency. The traditional loss on drying methods are still the go-to methods due to their robustness and simplicity. However, their inherent lack of selectivity imposes restrictions. These are overcome with newer techniques such as vaporization coulometric Karl Fischer titration (vap-C-KFT) and evolved water vapor analysis (EWV). The former is a well-established method, but the latter was more recently introduced and the literature available on it is scarce. This work aims to bridge this gap in knowledge and demonstrate the comparability of the EWV to the more established vap-C-KFT. Multiple samples were studied and the data are analyzed along the principles reported recently by INRiM with a few modifications.
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| 4. |
- Hecht, Max, et al.
(författare)
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Sponge Spray-Reaching New Dimensions of Direct Sampling and Analysis by MS
- 2017
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Ingår i: Analytical Chemistry. - : American Chemical Society (ACS). - 0003-2700 .- 1520-6882. ; 89:21, s. 11592-11597
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Tidskriftsartikel (refereegranskat)abstract
- Sample preparation for the analysis of clinical samples with the mass spectrometer (MS) can be extensive and expensive. Simplifying and speeding up the process would be very beneficial. This paper reports sponge spray-a novel sampling and direct MS analysis approach-attempting exactly that. It enables direct analysis without any sample preparation from dried blood, plasma, and urine. The tip of a volumetric absorptive microsampling device is used to collect an exact amount of sample and from that same tip an electrospray can be directed into a mass spectrometer. We demonstrate here that, although with significant matrix effects, quantitation of penicillin G, a common antimicrobial, is, possible in plasma and in urine, with essentially no sample preparation.
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| 5. |
- Laky, Markus, et al.
(författare)
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Serum levels of 25-hydroxyvitamin D are associated with periodontal disease
- 2017
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Ingår i: Clinical Oral Investigations. - : Springer. - 1432-6981 .- 1436-3771. ; 21:5, s. 1553-1558
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Vitamin D plays an essential role in bone metabo- lism as well as in immunity. Hence, it might affect the devel- opment and extent of periodontal disease. The aim of this study was the assessment of 25-hydroxyvitamin D (25(OH)D) status in periodontal disease. Materials and methods Twenty-nine patients with severe periodontal disease and 29 healthy volunteers were recruited in this case-control-study. Serum 25(OH)D levels, Periodontal Probing Depth (PPD), Clinical Attachment Level (CAL), Bleeding on Probing (BOP), Body Mass Index (BMI), and current smoking status and smoking history (packyears) were assessed in all participants. Serum 25(OH)D levels were com- pared between controls and cases. Multivariable logistic regression was used to determine the odds ratio (OR) and 95 % confidence interval (CI) for periodontal disease in 25(OH)D deficient probands. Results Patients with periodontal disease presented a signifi- cantly higher proportion of deficient 25(OH)D levels (i.e., <50 nmol/l) compared to healthy controls (48 vs. 14 % respec- tively). The adjusted OR for periodontal disease with vitamin D deficiency was 1.5 (95 % CI, 1.13–1.98). No correlation between serum 25(OH)D levels and CAL, PPD, and BOP in the group with periodontal disease was found. Conclusions In this case-control-study 25(OH)D deficiency is significantly associated with periodontal disease. Clinical relevance The assessment of vitamin D levels in pa- tients presenting with periodontal disease seems advisable, as vitamin D deficiency might be involved in the onset and pro- gression of periodontal disease.
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| 6. |
- Margos, Gabriele, et al.
(författare)
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Rejection of the name Borreliella and all proposed species comb. nov. placed therein
- 2020
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Ingår i: International Journal of Systematic and Evolutionary Microbiology. - : MICROBIOLOGY SOC. - 1466-5026 .- 1466-5034. ; 70:5, s. 3577-3581
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Tidskriftsartikel (refereegranskat)abstract
- Rejection (nomen rejiciendum) of the name Borreliella and all new combinations therein is being requested on grounds of risk to human health and patient safety (Principle 1, subprinciple 2 and Rule 56a) and violation to aim for stability of names, to avoid useless creation of names (Principle 1, subprinciple 1 and 3) and that names should not be changed without sufficient reason (Principle 9 of the International Code of Nomenclature of Prokaryotes).
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