| 1. |
- Hop, Paul J., et al.
(författare)
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
- 2022
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science. - 1946-6234 .- 1946-6242. ; 14:633
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation-based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.
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| 2. |
- Li, Chen, et al.
(författare)
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- 2020
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Ingår i: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 106:3, s. 389-404
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Tidskriftsartikel (refereegranskat)abstract
- Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
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| 3. |
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| 4. |
- Bekes, Katrin, et al.
(författare)
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Pediatric patients' reasons for visiting dentists in all WHO regions
- 2021
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Ingår i: Health and Quality of Life Outcomes. - : BioMed Central (BMC). - 1477-7525 .- 1477-7525. ; 19:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact are the four oral health-related quality of life (OHRQoL) dimensions (4D) or areas in which oral disorders impact pediatric patients. Using their dentists' assessment, the study aimed to evaluate whether pediatric dental patients' oral health concerns fit into the 4D of the Oral Health-Related Quality of Life (OHRQoL) construct.METHODS: Dentists who treat children from 32 countries and all WHO regions were selected from a web-based survey of 1580 international dentists. Dentists were asked if their pediatric patients with current or future oral health concerns fit into the 4D of the Oral Health-Related Quality of Life (OHRQoL) construct. Proportions of all pediatric patients' oral health problems and prevention needs were computed.FINDINGS: Data from 101 dentists treating children only and 523 dentists treating children and adults were included. For 90% of pediatric patients, their current oral health problems fit well in the four OHRQoL dimensions. For 91% of oral health problems they intended to prevent in the future were related to these dimensions as well. Both numbers increased to at least 96% when experts analyzed dentists´ explanations of why some oral health problems would not fit these four categories.CONCLUSIONS: The study revealed the four fundamental components of dental patients, i.e., the four OHRQoL dimensions (Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact) are also applicable for pediatric patients, regardless of whether they have current or future oral health concerns, and should be considered when measuring OHRQoL in the pediatric dental patient population.
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| 5. |
- John, Mike T, et al.
(författare)
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Why Patients Visit Dentists : A Study in all World Health Organization Regions.
- 2020
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Ingår i: Journal of Evidence-Based Dental Practice. - : Elsevier. - 1532-3382 .- 1532-3390. ; 20:3
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The dimensions of oral health-related quality of life (OHRQoL) Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact are the major areas where patients are impacted by oral diseases and dental interventions. The aim of this study was to evaluate whether dental patients' reasons to visit the dentist fit the 4 OHRQoL dimensions.METHODS: Dentists (N = 1580) from 32 countries participated in a web-based survey. For their patients with current oral health problems, dentists were asked whether these problems were related to teeth, mouth, and jaws' function, pain, appearance, or psychosocial impact or whether they do not fit the aforementioned 4 categories. Dentists were also asked about their patients who intended to prevent future oral health problems. For both patient groups, the proportions of oral health problems falling into the 4 OHRQoL dimensions were calculated.RESULTS: For every 100 dental patients with current oral health problems, 96 had problems related to teeth, mouth, and jaws' function, pain, appearance, or psychosocial impact. For every 100 dental patients who wanted to prevent future oral health problems, 92 wanted to prevent problems related to these 4 OHRQoL dimensions. Both numbers increased to at least 98 of 100 patients when experts analyzed dentists' explanations of why some oral health problems would not fit the four dimension. For the remaining 2 of 100 patients, none of the dentist-provided explanations suggested evidence against the OHRQoL dimensions as the concepts that capture dental patients' suffering.CONCLUSION: Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact capture dental patients' oral health problems worldwide. These 4 OHRQoL dimensions offer a psychometrically sound and practical framework for patient care and research, identifying what is important to dental patients.
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| 6. |
- Sari, Sheizi Prista, et al.
(författare)
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Development and psychometric evaluation of an instrument to assess Knowledge, Attitude and Practice of Family Caregivers at Preventing Pressure Injuries (KAP-PI) in Indonesian community-dwelling older adults
- 2022
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Ingår i: BMC Nursing. - : BioMed Central. - 1472-6955 .- 1472-6955. ; 21:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The prevalence of pressure injuries among community-dwelling older adults in countries worldwide is still a serious problem. In Indonesia, older adults mostly rely on family members for (medical) care. Therefore, involving family members in the prevention and treatment of pressure injuries (PIs) could potentially decrease its prevalence rates. However, family members are usually not trained for such tasks. Hence, it is essential to first get more insight into the current state of affairs on family members' knowledge, attitude and actual practice of preventing PIs. Due to the lack of an existing instrument to measure knowledge, attitude and practice of family caregivers in preventing PIs, this study focuses on the development and evaluation of psychometric properties of such an instrument.METHODS: Three phases of instrument development and evaluation were used, including item generation, instrument construction and psychometric testing of the instrument. A total of 372 family caregivers of community-dwelling older adults who randomly selected participated in this study. Principal factor analysis, confirmatory factor analysis and Cronbach's alpha were performed to evaluate factor structure and internal consistency of the Knowledge, Attitude and Practice of Family Caregivers at Preventing Pressure Injuries (KAP-PI) instrument.RESULTS: The final version of the KAP-PI-instrument consists of a 12-item knowledge domain, a 9-item attitude domain, and a 12-item practice domain with Cronbach's Alpha values of 0.83, 0.93 and 0.89, respectively. The instrument appeared to be both reliable and valid.CONCLUSION: The KAP-PI instrument can be used in family nursing or community nursing practice, education, and research to assess knowledge, attitude and practice of pressure injury prevention of family caregivers.
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| 7. |
- Sekulić, Stella, et al.
(författare)
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Frequency of four-dimensional oral health problems across dental fields – A comparative survey of Slovenian and international dentists
- 2021
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Ingår i: Zdravstveno Varstvo. - : National Institute of Public Health Slovenia. - 0351-0026 .- 1854-2476. ; 60:4, s. 210-220
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To compare the frequency of patients' oral health problems and prevention needs among Slovenian and international dentists with the aim to validate the four oral health-related quality of life (OHRQoL) dimensions across six clinical dental fields in all World Health Organization (WHO) regions. Methods: An anonymous electronic survey in the English language was designed using Qualtrics software. A probability sampling for Slovenia and a convenience sampling strategy for dentist recruitment was applied for 31 countries. Dentists engaged in six dental fields were asked to categorize their patients' oral health problems and prevention needs into the four OHRQoL dimensions (Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact). Proportions of patients' problems and prevention needs were calculated together with the significance of Slovenian and international dentists' differences based on dental fields and WHO regions. Results: Dentists (n=1,580) from 32 countries completed the survey. There were 223 Slovenian dentists (females: 68%) with a mean age (SD) of 41 (10.6) years and 1,358 international dentists (females: 51%) with a mean age (SD) of 38 (10.4). Pain-related problems and prevention needs were the most prevalent among all six dental fields reported by dentists; Slovenian (37%) and 31 countries (45%). According to Cohen, differences between Slovenia, the broader European Region, and 31 countries were considered non-significant (<0.1). Conclusion: According to the dentists' responses, the frequency of patients' oral health problems and prevention needs are proportionate between Slovenia and 31 countries, regionally and globally. The four OHRQoL dimensions can be considered universal across all dental fields.
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