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- Lewczuk, Piotr, et al.
(författare)
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Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry.
- 2018
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Ingår i: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry. - : Informa UK Limited. - 1814-1412. ; 19:4, s. 244-328
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Tidskriftsartikel (refereegranskat)abstract
- In the 12 years since the publication of the first Consensus Paper of the WFSBP on biomarkers of neurodegenerative dementias, enormous advancement has taken place in the field, and the Task Force takes now the opportunity to extend and update the original paper. New concepts of Alzheimer's disease (AD) and the conceptual interactions between AD and dementia due to AD were developed, resulting in two sets for diagnostic/research criteria. Procedures for pre-analytical sample handling, biobanking, analyses and post-analytical interpretation of the results were intensively studied and optimised. A global quality control project was introduced to evaluate and monitor the inter-centre variability in measurements with the goal of harmonisation of results. Contexts of use and how to approach candidate biomarkers in biological specimens other than cerebrospinal fluid (CSF), e.g. blood, were precisely defined. Important development was achieved in neuroimaging techniques, including studies comparing amyloid-β positron emission tomography results to fluid-based modalities. Similarly, development in research laboratory technologies, such as ultra-sensitive methods, raises our hopes to further improve analytical and diagnostic accuracy of classic and novel candidate biomarkers. Synergistically, advancement in clinical trials of anti-dementia therapies energises and motivates the efforts to find and optimise the most reliable early diagnostic modalities. Finally, the first studies were published addressing the potential of cost-effectiveness of the biomarkers-based diagnosis of neurodegenerative disorders.
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- Stray-Pedersen, Asbjorg, et al.
(författare)
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Primary immunodeficiency diseases : Genomic approaches delineate heterogeneous Mendelian disorders
- 2017
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Ingår i: Journal of Allergy and Clinical Immunology. - : MOSBY-ELSEVIER. - 0091-6749 .- 1097-6825. ; 139:1, s. 232-245
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Tidskriftsartikel (refereegranskat)abstract
- Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/ 110) and management was directly altered in nearly a quarter (26/ 110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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- Hussain, Badra, et al.
(författare)
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Peri-Implant Health and the Knowing-Doing Gap-A Digital Survey on Procedures and Therapies
- 2021
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Ingår i: FRONTIERS IN DENTAL MEDICINE. - : Frontiers Media S.A.. - 2673-4915. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Peri-implant tissue maintenance and treatment is becoming a serious challenge in implantology. With increasing numbers of implants being placed, more cases of peri-implant mucositis and peri-implantitis is seen. A digital survey on peri-implant disease management was issued to experts in periodontology and implantology to identify the tools and procedures most commonly used today to treat peri-implant diseases and successfully manage peri-implant health. The primary aim was to assess whether there is consensus in the choice of treatment to manage peri-implant diseases and to prevent their recurrence once treated. The secondary aim was to obtain insight into future protocols and /or devices, and the research and development needed.Materials and Methods: Participants in this digital survey were professionals specialising in periodontology, oral surgery, and implant dentistry. The questionnaire included both a series of closed- and open-ended questions. A total of 16 countries participated. The survey was sent by e-mail to 70 individuals, 66 received the survey and 37 of receivers responded, two of the participants were excluded due to insufficient filling of the survey. In the end 35 respondents completed the survey.Results: Respondents agree that the efficacy of mechanical and chemical decontamination of implant surfaces needs to be improved and better documented. It is a common opinion that the current remedies, mostly adapted from periodontal practises, do not provide effective and reliable clinical outcomes when treating peri-implant ailments. There is a general agreement amongst experts that regularly scheduled (3-6-month intervals) maintenance treatments are essential for maintaining peri-implant health in patients experiencing implant complications. Respondents are also concerned about unnecessary use of systemic antibiotics for managing peri-implant health.Conclusion: Regardless of agreements in parts, there was no observed consensus on the most effective treatment options for treating peri-implantitis. The experts all agree it is an urgent need for well-designed, long-term follow-up randomised and controlled clinical trials comparing interventions to provide an evidence-based strategy for peri-implant health management.
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