| 1. |
- Sumpter, N. A., et al.
(författare)
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Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout
- 2023
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Ingår i: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 75:5, s. 816-825
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Tidskriftsartikel (refereegranskat)abstract
- Objective. To determine whether a gout polygenic risk score (PRS) is associated with age at gout onset and tophaceous disease in European, East Polynesian, and West Polynesian men and women with gout. Methods. A 19-variant gout PRS was produced in 7 European gout cohorts (N = 4,016), 2 East Polynesian gout cohorts (N = 682), and 1 West Polynesian gout cohort (N = 490). Sex-stratified regression models were used to estimate the relationship between the PRS and age at gout onset and tophaceous disease. Results. The PRS was associated with earlier age at gout onset in men (beta = -3.61 in years per unit PRS [95% confidence interval (95% CI) -4.32, -2.90] in European men; beta = -6.35 [95% CI -8.91, -3.80] in East Polynesian men; beta = -3.51 [95% CI -5.46, -1.57] in West Polynesian men) but not in women (beta = 0.07 [95% CI -2.32, 2.45] in European women; beta = 0.20 [95% CI -7.21, 7.62] in East Polynesian women; beta -3.33 [95% CI -9.28, 2.62] in West Polynesian women). The PRS showed a positive association with tophaceous disease in men (odds ratio [OR] for the association 1.15 [95% CI 1.00, 1.31] in European men; OR 2.60 [95% CI 1.66, 4.06] in East Polynesian men; OR 1.53 [95% CI 1.07, 2.19] in West Polynesian men) but not in women (OR for the association 0.68 [95% CI 0.42, 1.10] in European women; OR 1.45 [95% CI 0.39, 5.36] in East Polynesian women). The PRS association with age at gout onset was robust to the removal of ABCG2 variants from the PRS in European and East Polynesian men (beta = -2.42 [95% CI -3.37, -1.46] and beta = -6.80 [95% CI -10.06, -3.55], respectively) but not in West Polynesian men (beta = -1.79 [95% CI -4.74, 1.16]). Conclusion. Genetic risk variants for gout also harbor risk for earlier age at gout onset and tophaceous disease in European and Polynesian men. Our findings suggest that earlier gout onset involves the accumulation of gout risk alleles in men but perhaps not in women, and that this genetic risk is shared across multiple ancestral groups.
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| 2. |
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| 3. |
- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 4. |
- Amjad, M., et al.
(författare)
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Efficacy of Quinapyramine Sulphate, Isometamedium Chloride and Diminazene Aceturate For Treatment of Surra
- 2022
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Ingår i: Journal of Animal and Plant Sciences. - : Pakistan Agricultural Scientists Forum. - 1018-7081. ; 32:3, s. 663-669
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Tidskriftsartikel (refereegranskat)abstract
- Trypanosomiasis (Surra) is a parasitic and zoonotic disease caused by Trypanosoama evansi, transmitted by insect vectors Tabanus and Stomoxys mechanically. The aim of the present study was to determine the therapeutic efficacy of various trypanosidal drugs against trypanosomiasis in Thoroughbred horses. Horses having clinical signs of trypanosomiasis were diagnosed through blood smear through a microscope were selected for this study. The infected horses were divided into three experimental groups for therapeutic trials. Animals in group A were treated with a single dose of quinapyramine sulphate @ 3000mg/ml per 50/kg body weight; group B was treated with a single dose of isometamedium chloride Hydrochloride@ 0.5 mg/2.5 ml of 1% solution per 50/kg body weight; group C was treated with a single dose of diminazene aceturate@ 2360 mg/15 ml per 100/kg. Results revealed that significant (P<0.0001) de cline in the values of erythrocyte counts (RBC), hemoglobin concentration (Hb), packed cell volume (PCV), platelets (PLT) and a significant (P<0.0001) increase in white blood cells (WBC), granulocytes, and monocytes in infected horses as compared to healthy ones. Therapeutic trials indicated that quinapyramine sulphate that showed 100% efficacy at 21th days had significantly higher than isometamedium chloride and diminazene aceturate (95.83 and 75% efficacy, respectively). The hematological parameters of recovered horses were significantly restored to normal values on day 21 after treatment. It is concluded that quinapyramine sulphate is the drug of choice against trypanosomiasis in Thoroughbred horses.
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| 5. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 6. |
- Karmin, Monika, et al.
(författare)
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A recent bottleneck of Y chromosome diversity coincides with a global change in culture.
- 2015
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Ingår i: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 25:4
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Tidskriftsartikel (refereegranskat)abstract
- It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.
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| 7. |
- Irum, S., et al.
(författare)
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Cutaneous Leishmaniasis (CL) : A Cross-Sectional Community Based Survey on Knowledge, Attitude and Practices in a Highly Endemic Area of Waziristan (KPK Province), Pakistan
- 2021
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Ingår i: Acta Tropica. - : Elsevier. - 0001-706X .- 1873-6254. ; 213
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Tidskriftsartikel (refereegranskat)abstract
- Recent outbreaks of Cutaneous Leishmaniasis (CL) in Waziristan make the disease a public health concern in Khyber Pakhtunkhwa (KPK) province, Pakistan. The awareness and behavior of local community towards the disease is an important factor towards effective control and management of CL in endemic areas of Pakistan. A cross-sectional community based survey was piloted in new emerging district of North Waziristan Agency (KPK province), Pakistan from August 2019- February 2020. The study aimed to examine the Knowledge, Attitude and Practices (KAP) of the local community members regarding CL. The results revealed that majority of the participants were male. Only 48.2% participants have knowledge about CL and the respondents had a moderate knowledge of CL vector and the disease. Few of the respondents were aware that CL is caused by sand flies, their breeding place, biting time, transmission of CL and control measures. Skin infection and sand-flies were the main disease symptoms and disease vector were known to some of the respondents. Most of the respondents showed positive attitude towards disease seriousness and believed that the disease could be cured and can be treated through modern medicines. Admission to hospitals, cleanliness and use of bed nets were the treatment measures for the disease in suspected patients, whereas some believed that the use of bed nets could be helpful in preventing the leishmaniasis. Moderate knowledge of the CL and its transmission in the study area emphasize the need to initiate health education and awareness campaigns to reduce the disease risk and burden in this highly endemic area in near future.
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| 8. |
- Picetti, Edoardo, et al.
(författare)
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Early management of adult traumatic spinal cord injury in patients with polytrauma : a consensus and clinical recommendations jointly developed by the World Society of Emergency Surgery (WSES) & the European Association of Neurosurgical Societies (EANS)
- 2024
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Ingår i: World Journal of Emergency Surgery. - : BioMed Central (BMC). - 1749-7922. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: The early management of polytrauma patients with traumatic spinal cord injury (tSCI) is a major challenge. Sparse data is available to provide optimal care in this scenario and worldwide variability in clinical practice has been documented in recent studies.Methods: A multidisciplinary consensus panel of physicians selected for their established clinical and scientific expertise in the acute management of tSCI polytrauma patients with different specializations was established. The World Society of Emergency Surgery (WSES) and the European Association of Neurosurgical Societies (EANS) endorsed the consensus, and a modified Delphi approach was adopted.Results: A total of 17 statements were proposed and discussed. A consensus was reached generating 17 recommendations (16 strong and 1 weak).Conclusions: This consensus provides practical recommendations to support a clinician's decision making in the management of tSCI polytrauma patients.
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| 9. |
- Saqib, M. A. N., et al.
(författare)
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Effect of COVID-19 lockdown on patients with chronic diseases
- 2020
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Ingår i: Diabetes & Metabolic syndrome. - : Elsevier. - 1871-4021 .- 1878-0334. ; 14:6, s. 1621-1623
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Background and aims: We sought to measure the effect of lockdown, implemented to contain COVID-19 infection, on routine living and health of patients with chronic diseases and challenges faced by them. Methods: A semi-structured online questionnaire was generated using “Google forms” and sent to the patients with chronic diseases using WhatsApp. Data were retrieved and analyzed using SPSS. Results: Out of 181 participants, 98% reported effect of lockdown on their routine living while 45% reported an effect on their health. The key challenges due to lockdown were to do daily exercise, missed routine checkup/lab testing and daily health care. Conclusion: It is important to strategize the plan for patients with chronic diseases during pandemic or lockdown.
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| 10. |
- Yasin, A., et al.
(författare)
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More on the Ridge Parameter Estimators for the Gamma Ridge Regression Model : Simulation and Applications
- 2022
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Ingår i: Mathematical problems in engineering (Print). - : Hindawi Publishing Corporation. - 1024-123X .- 1563-5147.
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Tidskriftsartikel (refereegranskat)abstract
- The Gamma ridge regression estimator (GRRE) is commonly used to solve the problem of multicollinearity, when the response variable follows the gamma distribution. Estimation of the ridge parameter estimator is an important issue in the GRRE as well as for other models. Numerous ridge parameter estimators are proposed for the linear and other regression models. So, in this study, we generalized these estimators for the Gamma ridge regression model. A Monte Carlo simulation study and two real-life applications are carried out to evaluate the performance of the proposed ridge regression estimators and then compared with the maximum likelihood method and some existing ridge regression estimators. Based on the simulation study and real-life applications results, we suggest some better choices of the ridge regression estimators for practitioners by applying the Gamma regression model with correlated explanatory variables.
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