scholarly journals Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Fakher Rahim ◽  
Hamid Galehdari ◽  
Javad Mohammadi-asl ◽  
Najmaldin Saki

Aims. This review summarized all available evidence on the accuracy of SNP-based pathogenicity detection tools and introduced regression model based on functional scores, mutation score, and genomic variation degree. Materials and Methods. A comprehensive search was performed to find all mutations related to Crigler-Najjar syndrome. The pathogenicity prediction was done using SNP-based pathogenicity detection tools including SIFT, PHD-SNP, PolyPhen2, fathmm, Provean, and Mutpred. Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. Results. Comparing the diagnostic OR, our model showed high detection potential (diagnostic OR: 16.71, 95% CI: 3.38–82.69). The highest MCC and ACC belonged to our suggested model (46.8% and 73.3%), followed by SIFT (34.19% and 62.71%). The AUC analysis showed a significance overall performance of our suggested model compared to the selected SNP-based pathogenicity detection tool (P=0.046). Conclusion. Our suggested model is comparable to the well-established SNP-based pathogenicity detection tools that can appropriately reflect the role of a disease-associated SNP in both local and global structures. Although the accuracy of our suggested model is not relatively high, the functional impact of the pathogenic mutations is highlighted at the protein level, which improves the understanding of the molecular basis of mutation pathogenesis.

2020 ◽  
Vol 10 ◽  
Author(s):  
Zhen Yao ◽  
Guangyu Gao ◽  
Jiawen Yang ◽  
Yuming Long ◽  
Zhenzhen Wang ◽  
...  

Cancer is one of the main causes of human death worldwide. Recently, many studies have firmly established the causal relationship between oxidative stress and cancer initiation and progression. As a key protein in PI3K/Akt signaling pathway, p-AKT (phosphorylated Akt) participates in the process of oxidative stress and plays a prognostic role in various hematologic tumors and solid tumors. We conducted a comprehensive search of the PubMed, Embase and Cochrane libraries to identify studies published in the past decade involving cancer patients expressing p-AKT that reported overall survival (OS) during follow-up. In this study, 6,128 patients in total were evaluated from 29 enrolled articles, and we concluded that overexpression of p-AKT was closely related to worse OS in cancer patients with a hazard ratio (HR) of 2.33 (95% CI: 1.67–4.00). Furthermore, we conducted a subgroup analysis, and the results indicated that overexpression of p-AKT was associated with worse OS in hematological tumor (HR: 1.64, 95% CI: 1.41–1.92), and solid tumor (HR: 2.44, 95% CI: 1.61–5.26). High expression of p-AKT is related to poor prognosis of various hematologic tumors and solid tumors.


2020 ◽  
pp. 112067212092244 ◽  
Author(s):  
Raymond Pranata ◽  
Rachel Vania ◽  
Andi Arus Victor

Purpose: We aimed to perform a systematic literature search on the latest evidence of the role of statin in reducing diabetic retinopathy and its need for intervention. Methods: A comprehensive search on cohort studies/clinical trials that assess statins and diabetic retinopathy up until August 2019 was performed. The outcome measured was the incidence of diabetic retinopathy and its need for intervention. Results: There were 558.177 patients from six studies. Statin was associated with a lower incidence of diabetic retinopathy (hazard ratio: 0.68 (0.55, 0.84), p < 0.001; I2: 95%). For the subtypes of diabetic retinopathy, statin lowers the incidence of proliferative diabetic retinopathy (hazard ratio: 0.69 (0.51, 0.93), p = 0.01; I2: 90%), non-proliferative diabetic retinopathy (hazard ratio: 0.80 (0.66, 0.96), p = 0.02; I2: 93%), and diabetic macular edema (hazard ratio: 0.56 (0.39, 0.80), p = 0.002; I2: 82%). Statin was associated with a reduced need for retinal laser treatment with a hazard ratio of 0.70 (0.64, 0.76) (p < 0.001; I2: 0%), intravitreal injection with a hazard ratio of 0.82 (0.79, 0.85) (p < 0.001; I2: 0%), and vitrectomy with a hazard ratio of 0.64 (0.48, 0.85) (p < 0.001; I2: 75%). Overall, statin was associated with a reduced need for intervention for diabetic retinopathy with a hazard ratio of 0.72 (0.64, 0.80) (p < 0.001; I2: 73%). The regression-based Egger’s test showed statistically significant small-study effects for non-proliferative diabetic retinopathy (p = 0.011) outcomes. Conclusion: Statin was associated with a decreased risk of diabetic retinopathy and its subtypes. Statin also reduced the need for intervention with retinal laser treatment, intravitreal injection, and vitrectomy.


2021 ◽  
Vol 10 (11) ◽  
pp. 2448
Author(s):  
Sara Palmieri ◽  
Giovanni Mansueto ◽  
Simona Scaini ◽  
Gabriele Caselli ◽  
Walter Sapuppo ◽  
...  

The role of worry and rumination in eating disorders (EDs) is controversial. This meta-analysis of the literature is aimed at clarifying the relationship between repetitive negative thinking (RNT) and EDs. In accordance with the PRISMA criteria, a comprehensive search of the literature was conducted on PubMed and PsycInfo from inception to March 2021. Search terms: “eating disorder/anorexia/bulimia/binge eating disorder” AND “worry/rumination/brooding/repetitive thinking”. A manual search of reference lists was also run. Forty-three studies were included. RNT was found to be associated with anorexia, bulimia, and binge eating disorder. A moderating effect was found for “presence/absence ED diagnosis” and “subtype of ED symptom”. ED patients showed higher RNT than the general population. No differences were observed for age or between worry and rumination in the magnitude of their association with EDs.


Author(s):  
Christine Bödicker ◽  
Jonas Reinckens ◽  
Michael Höfler ◽  
Jürgen Hoyer

Abstract Purpose We aimed to synthesize the evidence for an association between childhood maltreatment and body image disturbances in adulthood. Information on maltreatment subtypes and mediator variables was included to gain further insights into the mechanisms of the association. In addition, we aimed to examine the role of body image disturbances in the development of negative mental health outcomes associated with childhood maltreatment. Methods Based on a comprehensive search strategy, eligible studies were identified in PubMed, Scopus, and Web of Science. The eligibility assessment was performed by two reviewers, and 132 articles were studied full-text. To reduce heterogeneity, only non-clinical samples were included in the meta-analysis. A meta-regression was computed to examine the influence of maltreatment subtype on body image disturbances. Results Our results provide evidence for a robust association between childhood maltreatment and cognitive-affective body image, both in clinical and community samples. Included studies (N = 40) indicate that body image disturbances are especially pronounced in individuals suffering from Posttraumatic Stress Disorder (PTSD) after childhood maltreatment. The meta-analysis included 12 studies with a total of 15.481 participants, and indicates a small overall effect size (r = 0.21, 95% CI = [0.16, 0.26], p < .001). Meta-regression revealed no significant impact of maltreatment subtype in non-clinical samples. Conclusion Childhood maltreatment should be considered as a distal risk factor for the development of a negative cognitive-affective body image. We argue for future longitudinal studies which allow a better understanding of the pathways linking childhood maltreatment, body image disturbances and associated psychopathology.


2017 ◽  
Vol 46 (4) ◽  
pp. 473-487 ◽  
Author(s):  
Yulia Panteleeva ◽  
Grazia Ceschi ◽  
Donald Glowinski ◽  
Delphine S. Courvoisier ◽  
Didier Grandjean

The beneficial influence of listening to music on anxiety states has often been discussed. However, the empirical evidence and theoretical mechanisms underlying these effects remain controversial. The aim of this study is to conduct a meta-analysis of randomized controlled trials on the effects of music on anxiety in healthy individuals. A comprehensive search in the PsycINFO, Cochrane Library, PubMed and Web of Knowledge databases produced 19 articles complying with the eligibility criteria. The main results of the study reveal an overall decrease in self-reported anxiety ( d = −0.30, 95% CI [–0.55, –0.04]); however, the decrease was not significant for psychophysiological signals related to anxiety. Nevertheless, in several cases, listening to music greatly affects blood pressure, cortisol level and heart rate. The great heterogeneity of the studies and the lack of rigorous methodological standards, assessed with CONSORT guidelines, may have biased the results. Thus, listening to music should be cautiously considered as a part of more complex music-based psychological interventions for anxiety regulation. Nonetheless, as discussed in this article, the role of underlying processes (spontaneous memory recollections, mental imagery) must not be neglected. Further research perspectives are discussed.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Pouya Abbasgholizadeh ◽  
Amirreza Naseri ◽  
Ehsan Nasiri ◽  
Vahideh Sadra

Abstract Background and purpose Hashimoto thyroiditis (HT) is the most common inflammatory autoimmune thyroid disease and also the most common cause of hypothyroidism in developed countries. There is evidence of the role of HT in developing thyroid cancers (TCs). This study investigated the association between HT and different types of TCs. Methods Results of a comprehensive search in three major databases, as well as hand searching, were screened in title/abstract and full-text stages and the relevant data were extracted from the studies that met the inclusion criteria. Risk of bias (RoB) was assessed using the Joanna Briggs Institute (JBI) critical appraisal tools and the meta-analysis was conducted with Comprehensive Meta-Analysis software. Results Out of 4785 records, 50 studies were included in the systematic review, and 27 of them met the criteria for quantitative synthesis. The results indicated a significant role for HT in developing papillary TC (OR: 1.65; 95% CI: 1.04 to 2.61), medullary TC (OR: 2.70; 95% CI: 1.20 to 6.07) and lymphoma (OR:12.92; 95% CI: 2.15 to 77.63); but not anaplastic TC (OR: 1.92; 95% CI: 0.29 to 1.90) and follicular TC (OR: 0.73; 95% CI: 0.41 to 1.27). Also, this study found a significant association between HT and thyroid malignancies (OR: 1.36; 95% CI: 1.05 to 1.77). Conclusion Although we found a significant association between HT and some types of TCs, High RoB studies, high level of heterogeneity, and the limited number of well-designed prospective studies, suggested the need for more studies to reach more reliable evidence.


2013 ◽  
Vol 18 (1) ◽  
pp. 1-18 ◽  
Author(s):  
Robert J. Barth

Abstract Scientific findings have indicated that psychological and social factors are the driving forces behind most chronic benign pain presentations, especially in a claim context, and are relevant to at least three of the AMA Guides publications: AMA Guides to Evaluation of Disease and Injury Causation, AMA Guides to Work Ability and Return to Work, and AMA Guides to the Evaluation of Permanent Impairment. The author reviews and summarizes studies that have identified the dominant role of financial, psychological, and other non–general medicine factors in patients who report low back pain. For example, one meta-analysis found that compensation results in an increase in pain perception and a reduction in the ability to benefit from medical and psychological treatment. Other studies have found a correlation between the level of compensation and health outcomes (greater compensation is associated with worse outcomes), and legal systems that discourage compensation for pain produce better health outcomes. One study found that, among persons with carpal tunnel syndrome, claimants had worse outcomes than nonclaimants despite receiving more treatment; another examined the problematic relationship between complex regional pain syndrome (CRPS) and compensation and found that cases of CRPS are dominated by legal claims, a disparity that highlights the dominant role of compensation. Workers’ compensation claimants are almost never evaluated for personality disorders or mental illness. The article concludes with recommendations that evaluators can consider in individual cases.


Sign in / Sign up

Export Citation Format

Share Document