| 1. |
- Wang, Anqi, et al.
(författare)
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
- 2023
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:12, s. 2065-2074
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Tidskriftsartikel (refereegranskat)abstract
- The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
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| 2. |
- Conti, David, V, et al.
(författare)
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
- 2021
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:1, s. 65-75
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Tidskriftsartikel (refereegranskat)abstract
- Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction. A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.
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| 3. |
- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Abdelmalek, George, et al.
(författare)
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Intercostal nerve transfer for biceps reinnervation in obstetrical brachial plexus palsy : a preferred reporting items for systematic reviews and meta-analysis for individual patient data systematic review using individualized fusion and comparison to supraclavicular exploration and nerve grafting
- 2024
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Ingår i: Journal of Children's Orthopaedics. - : Sage Publications. - 1863-2521 .- 1863-2548. ; 18:1, s. 54-63
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Forskningsöversikt (refereegranskat)abstract
- Introduction: The objective of this study was to search existing literature on nerve reconstruction surgery in patients with obstetric brachial plexus palsy to determine whether treatment with supraclavicular exploration and nerve grafting produced better elbow flexion outcomes compared to intercostal nerve transfer.Methods: This study was a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis for Individual Patient Data guidelines. A systematic search was conducted using multiple databases. An ordinal regression model was used to analyze the effect of using supraclavicular exploration and nerve grafting or intercostal nerve on elbow flexion with the two scores measured: elbow flexion Medical Research Council scores and Toronto active movements scale scores for elbow flexion.Results: A final patient database from 6 published articles consisted of 83 supraclavicular exploration and nerve grafting patients (73 patients with Medical Research Council and 10 patients with Toronto score) and 7 published articles which consisted of 131 intercostal nerve patients (84 patients with Medical Research Council and 47 patients with Toronto scores). Patients who underwent supraclavicular exploration and nerve grafting presented with an average Medical Research Council score of 3.9 ± 0.72 and an average Toronto score of 6.2 ± 2.2. Patients who underwent intercostal nerve transfer presented with an average Medical Research Council score of 3.9 ± 0.71 and an average Toronto score of 6.4 ± 1.2. There was no statistical difference between supraclavicular exploration and nerve grafting and intercostal nerve transfer when utilizing Medical Research Council elbow flexion scores (ordinal regression: 0.3821, standard error: 0.4590, p = 0.2551) or Toronto Active Movement Scale score for elbow flexion (ordinal regression: 0.7154, standard error: 0.8487, p = 0.2188).Conclusion: Regardless of surgical intervention utilized (supraclavicular exploration and nerve grafting or intercostal nerve transfers), patients had excellent outcomes for elbow flexion following obstetric brachial plexus palsy when utilizing Medical Research Council or Toronto scores for elbow flexion. The difference between these scores was not statistically significant.Type of study/Level of evidence: Therapeutic Study: Investigating the Result of Treatment/level III.
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| 5. |
- Mahajan, Anubha, et al.
(författare)
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
- 2022
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
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Tidskriftsartikel (refereegranskat)abstract
- We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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| 6. |
- Mendiratta, Dhruv, et al.
(författare)
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Educational quality of YouTube content on brachial plexus injury and treatment
- 2024
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Ingår i: Microsurgery. - : John Wiley & Sons. - 0738-1085 .- 1098-2752. ; :1
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: While surgical literature exists on birth-related brachial plexus injury (BPI), there are not validated sources of information on BPI for patients, which can impact patient autonomy and decision-making. With YouTube as a popular source for patients to research diagnoses, this study aims to evaluate the quality of information regarding BPI and its treatment available on the platform.Materials and Methods: BPI YouTube videos were screened independently by two reviewers. Videos were categorized by source: (1) academic, government, and non-profit organizations; (2) private practices, companies, and for-profit organizations; (3) independent users. Each video was evaluated for reliability, credibility, and quality using the modified DISCERN criteria (scale, 0–5), Journal of the American Medical Association (JAMA) criteria (scale, 0–4), and Global Quality Scale (GQS; scale, 1–5). Surgical treatment videos were analyzed by the senior author using a modified “treatment” DISCERN criteria (scale, 8–40). Non-English videos were excluded from this study. Analysis of variance tests were used to compare means.Results: One hundred and fifteen videos were selected for final analysis. The mean modified DISCERN score was 3.26; JAMA was 2.31; GQS was 3.48. Videos were subdivided according to source. Group 1, 2, and 3 had 45, 24, and 46 videos, respectively. Modified DISCERN score was greater for Group 1 than Group 2 (3.58 vs. 3.04, p <.001) and Group 3 (3.58 vs. 3.07, p <.001). JAMA score was greater for Group 1 than Group 2 (2.63 vs 2.15, p =.041) and Group 3 (2.63 vs. 2.08, p =.002). GQS score was greater for Group 1 than Group 2 (3.93 vs. 3.31, p =.031) and Group 3 (3.93 vs. 3.13, p <.001). Of the 34 videos (44.7%) that mentioned treatment, the DISCERN score was 14.32.Conclusion: The videos analyzed were found to have moderate reliability, credibility, and quality. The reliability of information regarding treatments for BPI was poor. Healthcare providers should supply additional information on treatment of BPI.
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| 7. |
- Pilla, Rachel M., et al.
(författare)
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Deeper waters are changing less consistently than surface waters in a global analysis of 102 lakes
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Globally, lake surface water temperatures have warmed rapidly relative to air temperatures, but changes in deepwater temperatures and vertical thermal structure are still largely unknown. We have compiled the most comprehensive data set to date of long-term (1970–2009) summertime vertical temperature profiles in lakes across the world to examine trends and drivers of whole-lake vertical thermal structure. We found significant increases in surface water temperatures across lakes at an average rate of + 0.37 °C decade−1, comparable to changes reported previously for other lakes, and similarly consistent trends of increasing water column stability (+ 0.08 kg m−3 decade−1). In contrast, however, deepwater temperature trends showed little change on average (+ 0.06 °C decade−1), but had high variability across lakes, with trends in individual lakes ranging from − 0.68 °C decade−1 to + 0.65 °C decade−1. The variability in deepwater temperature trends was not explained by trends in either surface water temperatures or thermal stability within lakes, and only 8.4% was explained by lake thermal region or local lake characteristics in a random forest analysis. These findings suggest that external drivers beyond our tested lake characteristics are important in explaining long-term trends in thermal structure, such as local to regional climate patterns or additional external anthropogenic influences.
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| 8. |
- Pilla, Rachel M., et al.
(författare)
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Global data set of long-term summertime vertical temperature profiles in 153 lakes
- 2021
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Ingår i: Scientific Data. - : Springer Nature. - 2052-4463. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Climate change and other anthropogenic stressors have led to long-term changes in the thermal structure, including surface temperatures, deepwater temperatures, and vertical thermal gradients, in many lakes around the world. Though many studies highlight warming of surface water temperatures in lakes worldwide, less is known about long-term trends in full vertical thermal structure and deepwater temperatures, which have been changing less consistently in both direction and magnitude. Here, we present a globally-expansive data set of summertime in-situ vertical temperature profiles from 153 lakes, with one time series beginning as early as 1894. We also compiled lake geographic, morphometric, and water quality variables that can influence vertical thermal structure through a variety of potential mechanisms in these lakes. These long-term time series of vertical temperature profiles and corresponding lake characteristics serve as valuable data to help understand changes and drivers of lake thermal structure in a time of rapid global and ecological change.
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| 9. |
- Shafei, Jasmine, et al.
(författare)
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Trends of age and geographical location in microsurgical treatment of obstetric brachial plexus palsy
- 2022
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Ingår i: Bulletin of the Hospital for Joint Diseases. - : J. Michael Ryan Publishing. - 2328-4633 .- 2328-5273. ; 80:2, s. 195-199
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Tidskriftsartikel (refereegranskat)abstract
- Background: Debate over the optimal age at time of surgery for treatment of brachial plexus birth injury (BPBI) remains controversial, and there exists geographical variation in surgical preference for age at time of surgery. The objective of this review was to analyze trends in age and geography in brachial plexus microsurgery for treatment of brachial plexus birth injury (BPBI) over time.Methods: Review of the literature in this study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. PubMed, Cochrane, Web of Science, and the Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases were searched.Results: Pediatric patients undergoing brachial plexus microsurgery described in published reports before 2011 had a mean of 7.15 ± 6.56 months of age, while pediatric patients undergoing brachial plexus microsurgery surgery described in published reports after 2011 had a mean of 11.23 ± 9.76 months of age (p < 0.05). The mean age at surgery was lower in publications from Asian countries (6.29 months) than in publications from North America (11.34 months; p <0.05).Conclusions: Age at time of microsurgery for treatment of BPBI is increasing, with mean age at surgeries occurring in and after 2011 being 4 months higher than thos occuring before 2011. The mean age at surgery was about 5 months higher in North American publications than in Asian publications.
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| 10. |
- Srinivasan, Nivetha, et al.
(författare)
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Surgical timing in neonatal brachial plexus palsy : A PRISMA-IPD systematic review
- 2022
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Ingår i: Microsurgery. - : John Wiley & Sons. - 0738-1085 .- 1098-2752. ; 42:4, s. 381-390
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Forskningsöversikt (refereegranskat)abstract
- Background: Neonatal brachial plexus palsy (NBPP) is a serious complication of high-risk deliveries with controversy surrounding timing of corrective nerve surgery. This review systematically examines the existing literature and investigates correlations between age at time of upper trunk brachial plexus microsurgery and surgical outcomes.Methods: A systematic screening of PubMed, Cochrane, Web of Science, and CINAHL databases using PRISMA-IPD guidelines was conducted in January 2020 to include full-text English papers with microsurgery in upper trunk palsy, pediatric patients. Spearman rank correlation analysis and two-tailed t-tests were performed using individual patient data to determine the relationship between mean age at time of surgery and outcome as determined by the Mallet, Medical Research Council (MRC), or Active Movement Scale (AMS) subscores.Results: Two thousand nine hundred thirty six papers were screened to finalize 25 papers containing individual patient data (n = 256) with low to moderate risk of bias, as assessed by the ROBINS-I assessment tool. Mallet subscore for hand-to-mouth and shoulder abduction, AMS subscore for elbow flexion and external rotation, and MRC subscore for elbow flexion were analyzed alongside the respective age of patients at surgery. Spearman rank correlation analysis revealed a significant negative correlation (ρ = −0.30, p <.01, n = 89) between increasing age (5.50 ± 2.09 months) and Mallet subscore for hand-to-mouth (3.43 ± 0.83). T-tests revealed a significant decrease in Mallet hand-to-mouth subscores after 6 months (p <.05) and 9 months (p <.05) of age. No significant effects were observed for Mallet shoulder abduction, MRC elbow flexion, or AMS elbow flexion and external rotation.Conclusion: The cumulative evidence suggests a significant negative correlation between age at microsurgery and Mallet subscores for hand-to-mouth. However, a similar correlation with age at surgery was not observed for Mallet shoulder abduction, MRC elbow flexion, AMS external rotation, and AMS elbow flexion subscores.
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