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- Langefeld, Carl D., et al.
(författare)
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Transancestral mapping and genetic load in systemic lupus erythematosus
- 2017
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (similar to 50% of these regions have multiple independent associations); these include 24 novel SLE regions (P < 5 x 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.
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- Gonzalez-Ortiz, A, et al.
(författare)
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Sleep Quality After Intradialytic Oral Nutrition: A New Benefit of This Anabolic Strategy? A Pilot Study
- 2022
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Ingår i: Frontiers in nutrition. - : Frontiers Media SA. - 2296-861X. ; 9, s. 882367-
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Tidskriftsartikel (refereegranskat)abstract
- Since disturbances of appetite and sleep are closely related and both affect metabolic disorders, it would be expected that a renal specific oral nutritional supplement (RS-ONS) that covers the energy the patient does not consume on the HD day, could contribute to improve the nutritional status and body composition, as well as sleep quality. There is still scarce information related to this topic.AimTo evaluate the effect of the use of intra-dialytic RS-ONS vs. RS-ONS at home on sleep quality, nutritional status, and body composition in patients on HD.MethodsAdult patients < 65 years, with ≥3 months on HD were invited to participate in an open randomized pilot study (ISRCTN 33897). Patients were randomized to a dialysis-specific high-protein supplement provided during the HD session (Intradialytic oral nutrition [ION]) or at home (control), during non-HD days (thrice weekly, for both) 12 weeks. The primary outcome was sleep quality defined by the Pittsburgh Sleep Quality Index (PSQI) score. Nutritional assessment included Malnutrition Inflammation Score (MIS), bioelectrical impedance analysis, anthropometry, 3-day food records, and routine blood chemistries.ResultsA total of 23 patients completed the study. Age was median 35 (range 24–48 years), 42% were women. At baseline, the PSQI score was median 4 (range 2–7), and MIS showed a median of 6 (range 5–8); there were no baseline differences between groups. After intervention, both groups improved their MIS scores and similarly when we analyzed the whole cohort (pre- vs. post-intervention P < 0.01). Patients in the ION group improved the overall PSQI score to median 3 (2–5), and assessment of sleep duration and sleep disturbances (pre- vs. post-intervention P < 0.05), with a trend toward an effect difference compared to patients consuming the supplement at home (P for treatment-effect across arms 0.07 for PSQI score and 0.05 for sleep latency).ConclusionOral supplementation improved nutritional status in the whole cohort, but only ION improved the PSQI score. More studies are needed to explore the nutritional strategies that influence the relationship between sleep and nutritional status in HD patients.
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