| 1. |
- Mueller, Stefanie H., et al.
(författare)
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
- 2023
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Ingår i: Genome Medicine. - : BioMed Central (BMC). - 1756-994X. ; 15
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Tidskriftsartikel (refereegranskat)abstract
- Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.Results: In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 x 10(-6)) and AC058822.1 (P = 1.47 x 10(-4)), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C.Conclusions: Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 x 10(-5)), demonstrating the importance of diversifying study cohorts.
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| 2. |
- Bracci, Alessandro, et al.
(författare)
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Current Knowledge and Future Perspectives on Awake Bruxism Assessment : Expert Consensus Recommendations
- 2022
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Ingår i: Journal of Clinical Medicine. - : MDPI. - 2077-0383. ; 11:17
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Awake bruxism (AB) is differentiated from sleep bruxism (SB) by the differences in etiology, comorbidities, and consequences related to the different spectrum of muscle activities exerted in relation to the different circadian manifestations. Furthermore, less literature data are available on AB than on SB. The introduction of ecological momentary assessment (EMA) strategies has allowed for collecting valuable data on the frequency of the different activities reported by an individual in his/her natural environment. This strategy has been further improved with the recent use of smartphone technologies. Recent studies have described an average frequency of AB behaviors, within the range of 23-40% for otherwise healthy young adults. An association between AB and some psychological traits has emerged, and the findings have indicated that patients with musculoskeletal symptoms (e.g., temporomandibular joint and/or muscle pain, muscle stiffness, and fatigue) report higher AB frequencies. Preliminary data suggest that muscle bracing and teeth contact are the most commonly reported behaviors, while teeth clenching is much less frequently reported than commonly believed previously. Report of teeth grinding during wakefulness is almost absent. This paper has critically reviewed the currently available approaches for the assessment of AB. In addition, some future perspectives and suggestions for further research have been provided.
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| 3. |
- Bracci, Alessandro, et al.
(författare)
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Research routes on awake bruxism metrics : implications of the updated bruxism definition and evaluation strategies.
- 2024
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Ingår i: Journal of Oral Rehabilitation. - : John Wiley & Sons. - 1365-2842. ; 51:1, s. 150-161
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Forskningsöversikt (refereegranskat)abstract
- OBJECTIVE: In line with a similar recent proposal for sleep bruxism (SB), defining clinically oriented research routes to implement knowledge on awake bruxism (AB) metrics is important for an enhanced comprehension of the full bruxism spectrum, i.e. better assessment and more efficient management.METHODS: We summarised current strategies for AB assessment and proposed a research route for improving its metrics.RESULTS: Most of the literature focuses on bruxism in general or SB in particular, whilst knowledge on AB is generally fragmental. Assessment can be based on non-instrumental or instrumental approaches. The former include self-report (questionnaires, oral history) and clinical examination, whilst the latter include electromyography (EMG) of jaw muscles during wakefulness as well as the technology-enhanced ecological momentary assesment (EMA). Phenotyping of different AB activities should be the target of a research task force. In the absence of available data on the frequency and intensity of wake-time bruxism-type masticatory muscle activity, any speculation about the identification of thresholds and criteria to identify bruxers is premature. Research routes in the field must focus on the improvement of data reliability and validity.CONCLUSIONS: Probing deeper into the study of AB metrics is a fundamental step to assist clinicians in preventing and managing the putative consequences at the individual level. The present manuscript proposes some possible research routes to advance current knowledge. At different levels, instrumentally-based and subject-based information must be gathered in a universally accepted standardized approach.
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| 4. |
- Colonna, Anna, et al.
(författare)
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Ecological Momentary Assessment of Awake Bruxism Behaviors : A Scoping Review of Findings from Smartphone-Based Studies in Healthy Young Adults
- 2023
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Ingår i: Journal of Clinical Medicine. - : MDPI. - 2077-0383. ; 12:5
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Forskningsöversikt (refereegranskat)abstract
- Background: The recent introduction of ecological momentary assessment (EMA) smartphone-based strategies has allowed achieving some interesting data on the frequency of different awake bruxism (AB) behaviors reported by an individual in the natural environment. Objective: The present paper aims to review the literature on the reported frequency of AB based on data gathered via smartphone EMA technology. Methods: On September 2022, a systematic search in the Pubmed, Scopus and Google Scholar databases was performed to identify all peer-reviewed English-language studies assessing awake bruxism behaviors using a smartphone-based Ecological Momentary Assessment. The selected articles were assessed independently by two authors according to a structured reading of the articles’ format (PICO). Results: A literature search, for which the search terms “Awake Bruxism” and “Ecological Momentary Assessment” were used, identified 15 articles. Of them, eight fulfilled the inclusion criteria. The results of seven studies using the same smartphone-based app reported a frequency of AB behaviors in the range between 28.3 and 40% over one week, while another investigation adopted a different smartphone-based EMA approach via WhatsApp using a web-based survey program and reported an AB frequency of 58.6%. Most included studies were based on convenience samples with limited age range, highlighting the need for more studies on other population samples. Conclusions: Despite the methodological limits, the results of the reviewed studies provide a standpoint for comparison for future studies on the epidemiology of awake bruxism behaviors.
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