scholarly journals The FTO, PNPLA3 and TM6SF2 Gene Polymorphisms and Genetic Predisposition to NAFLD in Yakut Population

2021 ◽  
Vol 11 (1) ◽  
pp. 92-95
Author(s):  
Aleksandra Diakonova ◽  
Khariton Kurtanov ◽  
Nadezhda Pavlova ◽  
Tuyara Aleksandrova

The aim of our research was to study the distribution of alleles and genotypes of the FTO rs9939609 SNP, the PNPLA3 rs738409 SNP, and the TM6SF2 rs58542926 SNP in the Yakut population. Methods and Results: A total of 85 DNA samples from the population were tested. An analysis of the frequency distribution of alleles and genotypes of the FTO rs9939609 SNP in the study group did not reveal significant differences. An analysis of the frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP revealed that in men and women the G allele and the homozygous GG genotype prevailed. The results of the analysis of the frequency distribution of alleles and genotypes of the TM6SF2 rs58542926 SNP showed the predominance of individuals with the C allele (89% in men and 90% in women) with statistical significance in women. Conclusion: The further studies with a larger sample size are required to detect the features of the distribution of alleles and genotypes of the FTO rs9939609 SNP and the TM6SF2 rs58542926 SNP in that population.

Author(s):  
Mohammadreza Ranjkesh ◽  
Sanay Azizifard ◽  
Hamideh Azimi alamdari ◽  
Neda Ghorbani Khosroshahi

Background: Melasma is an acquired Hypermelanosis often difficult to treat. In this study, we assessed efficacy and safety of 5% hydroquinone cream plus non-ablative fractional 1540 erbium YAG laser and 5% hydroquinone cream alone in the treatment of melasma Methods: We selected 40 patients of melasma aged between 18 and 60 years for the study. Group 1 were treated with a cream of 5% hydroquinone and group 2 treated with a solution of hydroquinone 5% plus three sessions of non-ablative fractional 1540 erbium YAG laser at monthly interval. Improvement was assessed by the melasma-area-and-severity-index (MASI) score. Results: The two groups did not differ significantly in (MASI( score in the first month of treatment (p = 0/135), while during the second to fifth months, there were significant differences between the two groups (p <0.05) and (MASI( score was more reduced in the second group. The two groups did not show significant differences in the incidence of complications (erythema, hyperpigmentation, hypopigmentation). (p= 0/746, 0/158, 0/574, 0/135, 0/135 respectively, the first month, second month, third month and fourth month) Conclusion: A combination of hydroquinone and laser therapy had better results in the treatment of melasma. But due to some disagreements about the use of lasers in the treatment of melasma we recommend more studies with larger sample size to be taken to definitely show better therapeutic effect of laser.


2021 ◽  
Vol 36 (6) ◽  
pp. 1206-1206
Author(s):  
Arthur M Horton ◽  
Cecil R Reynolds

Abstract Objective This poster explores behavioral correlates of a recently developed Short-Form Test of Executive Functioning. Method Subjects were 23 adults referred by neurologists and psychiatrist for neuropsychological testing to a private practice. All subjects signed informed consent documents. Subjects included 12 males and 11 females, 20 subjects were Caucasians and 3 were African-Americans, 22 were right handed. Diagnoses included Stroke-12, Traumatic Brain Injury-6, Alzheimer’s disease-2, Multiple Sclerosis-1, Parkinson’s disease-1 and Epilepsy-1. All subjects were administered neuropsychological testing including the Short-Form Test of Executive Functioning (SF-TEF) and the AD8 was independently completed by a family member or in one case a family friend. The Sf-TEF is composed of 3 card sorting subtests of the Test of Verbal and Conceptual Fluency (TVCF) but rather than administering 116 cards only 58 are administered and full scales scores prorated to save time. The scales are Number Correct, Perseveration Errors and Number of Categories. The AD8 is a widely used questionnaire assessing behavioral functioning (handling medications and finances). The 3 short form subjects were each correlated with the AD8 scores. Results The correlations between the Number Correct, Perseveration Errors and Number of Categories scores and the AD8 scores were − 0.215, −0.225 and − 0.256 which were all non-significant at the P,0.05 level of statistical significance. It might be noted that if the study sample size were significantly increased then statistical significance could have been obtained. Conclusions While the results were not statistically significant, further study with a larger sample size might demonstrate better results.


Cosmetics ◽  
2020 ◽  
Vol 7 (4) ◽  
pp. 79
Author(s):  
Christopher Wallen-Russell ◽  
Sam Wallen-Russell

A significant loss of microbial biodiversity on the skin has been linked to an increased prevalence of skin problems in the western world. The primary objective of this study was to obtain a benchmark value for the microbial diversity found on healthy western skin, using the Chao1 index. This benchmark was used to update our 2017 skin health measuring mechanism in line with standardised methodology. It used 50 human participants from Graz in Austria and at a read depth of 6600 sequences, we found the average Chao1 diversity to be ~180, with upper and lower quartiles of ~208 and ~150, respectively. Previous work with a larger sample size was unsatisfactory to use as a benchmark because different diversity indices and evaluation methodologies were used. The Medical University of Graz used the most recent version of the Chao1 index to obtain diversity results. Because of this study, we can transfer other benchmarks of skin microbiome diversity to the methodology used in this work from our 2017 study, such as “unhealthy western skin” and “caveman/perfect skin”. This could aid with the diagnostic assessment of susceptibility to cutaneous conditions or diseases and treatment. We also investigated the effect of sex and age, which are two known skin microbiome affecting factors. Although no statistical significance is seen for sex- and age-related changes in diversity, there appear to be changes related to both. Our preliminary results (10 in each of the five age groups) show adults aged 28–37 have the highest average diversity, and adults aged 48–57 have the lowest average diversity. In future work, this could be improved by obtaining benchmark diversity values from a larger sample size for any age, sex, body site, and area of residence, to which subjects can be compared. These improvements could help to investigate the ultimate question regarding which environmental factors in the western world are the main cause of the huge rise in skin problems. This could lead to future restrictions of certain synthetic chemicals or products found to be particularly harmful to the skin.


1990 ◽  
Vol 29 (03) ◽  
pp. 243-246 ◽  
Author(s):  
M. A. A. Moussa

AbstractVarious approaches are considered for adjustment of clinical trial size for patient noncompliance. Such approaches either model the effect of noncompliance through comparison of two survival distributions or two simple proportions. Models that allow for variation of noncompliance and event rates between time intervals are also considered. The approach that models the noncompliance adjustment on the basis of survival functions is conservative and hence requires larger sample size. The model to be selected for noncompliance adjustment depends upon available estimates of noncompliance and event rate patterns.


2020 ◽  
Vol 66 (1) ◽  
pp. 19-22
Author(s):  
Melania Macarie ◽  
Simona Maria Bataga ◽  
Monica Pantea ◽  
Razvan Opaschi ◽  
Simona Mocan ◽  
...  

AbstractObjective: This study aims to determine the correlation between risk factors and erosive esophagitis development.Methods: We conducted a retrospective observational study on a consecutive series of 19.672 patients who underwent upper gastrointestinal endoscopy between 01.01.2011-31.12.2017. A total of 3005 patients, diagnosed with erosive esophagitis, were included in the present study and stratified according to Los Angeles classification.Results: During the studied period we found 3005 patients with erosive esophagitis, sex ratio male to female was 1.3/1, the most common forms of esophagitis being grade A and B: 74.54% patients with esophagitis grade A, 14.80% patients with grade B; 5.29% patients were with grade C and 5.35% patients with esophagitis grade D. In severe esophagitis the male predominance was more prevalent (249 males, 71 female), with a sex ratio 3.50/1. The correlation of male gender with severe esophagitis was highly statistically significant (p < 0.0001, OR 2.97; 95% CI 2.25-3.91). Hiatal hernia was diagnosed in 1171 patients, the presence of large hiatal hernias, being an important predictor, with statistical significance (p < 0.0001, OR 3.41; 95% CI 2.22-5.21), for severe esophagitis development. Incidence of Helicobacter pylori infection was 11.51%, in the entire study group, with no statistical significant difference between patients with mild or severe esophagitis (12.02% vs 7.18%).Conclusion: Erosive esophagitis is a frequent disease, the most common forms being grade A and B. Male gender and the presence of hiatal hernia are the most important risk factors for erosive esophagitis development, in our study group.


Author(s):  
S.S.Sai Karthikeyan

Background: Several methods have been employed for diagnosing inflammatory conditions including biomarkers, enzymes and various other clinical parameters. Dermatoglyphics is one such field which has gained entry in Forensic Medicine, Forensic Odontology and in General Medicine for diagnosing chronic inflammatory conditions. Periodontitis is a chronic inflammatory condition associated with destruction of periodontal tissues. This study aimed to assess the relationship between the fingerprint patterns and chronic periodontitis Methods: A total of 60 patients, belonging to both healthy and chronic periodontitis subjects were assessed by a commercially available fingerprint scanner. All the fingerprint images were assessed for the fingerprint pattern and the ridge count manually. The results were tabulated as percentage frequency distribution for the type of fingerprint pattern. The ridge count is shown as mean ± SD. Unpaired t test was applied to test for statistical significance. Results: The frequency distribution showed equal percentage of Radial Loop type of fingerprint pattern in subjects of both Health and Chronic Periodontitis. Statistical analysis showed Plain Whorl type of fingerprint pattern more significant in subjects having Chronic Periodontitis Conclusion: It was concluded that there might be a relationship between type of fingerprint pattern to the chances of a person having Chronic Periodontitis.


2020 ◽  
Vol 26 (2) ◽  
pp. 218-227
Author(s):  
Yi-Hang Chiu ◽  
Chia-Yueh Hsu ◽  
Mong-Liang Lu ◽  
Chun-Hsin Chen

Background: Clozapine has been used in treatment-resistant patients with schizophrenia. However, only 40% of patients with treatment-resistant schizophrenia have response to clozapine. Many augmentation strategies have been proposed to treat those clozapine-resistant patients, but the results are inconclusive. In this review, we intended to review papers dealing with the augmentation strategies in the treatment of clozapineresistant patients with schizophrenia. Method: We reviewed randomized, double-blind, placebo- or sham-controlled trials (RCT) for clozapine-resistant patients with schizophrenia in Embase, PsycINFO, Cochrane, and PubMed database from January 1990 to June 2019. Results: Antipsychotics, antidepressants, mood stabilizers, brain stimulation, such as electroconvulsive therapy (ECT) and repetitive transcranial magnetic stimulation, and other strategies, were used as an augmentation in clozapine-resistant patients with schizophrenia. Except for better evidence in memantine with 2 RCTs and cognitive behavior therapy in 2 studies to support its effectiveness, we found that all the other effective augmentations, including sulpiride, ziprasidone, duloxetine, mirtazapine, ECT, sodium benzoate, ginkgo biloba, and minocycline, had only one RCT with limited sample size. Conclusion: In this review, no definite effective augmentation strategy was found for clozapine-resistant patients. Some potential strategies with beneficial effects on psychopathology need further studies with a larger sample size to support their efficacy.


2021 ◽  
Vol 11 (3) ◽  
pp. 234
Author(s):  
Abigail R. Basson ◽  
Fabio Cominelli ◽  
Alexander Rodriguez-Palacios

Poor study reproducibility is a concern in translational research. As a solution, it is recommended to increase sample size (N), i.e., add more subjects to experiments. The goal of this study was to examine/visualize data multimodality (data with >1 data peak/mode) as cause of study irreproducibility. To emulate the repetition of studies and random sampling of study subjects, we first used various simulation methods of random number generation based on preclinical published disease outcome data from human gut microbiota-transplantation rodent studies (e.g., intestinal inflammation and univariate/continuous). We first used unimodal distributions (one-mode, Gaussian, and binomial) to generate random numbers. We showed that increasing N does not reproducibly identify statistical differences when group comparisons are repeatedly simulated. We then used multimodal distributions (>1-modes and Markov chain Monte Carlo methods of random sampling) to simulate similar multimodal datasets A and B (t-test-p = 0.95; N = 100,000), and confirmed that increasing N does not improve the ‘reproducibility of statistical results or direction of the effects’. Data visualization with violin plots of categorical random data simulations with five-integer categories/five-groups illustrated how multimodality leads to irreproducibility. Re-analysis of data from a human clinical trial that used maltodextrin as dietary placebo illustrated multimodal responses between human groups, and after placebo consumption. In conclusion, increasing N does not necessarily ensure reproducible statistical findings across repeated simulations due to randomness and multimodality. Herein, we clarify how to quantify, visualize and address disease data multimodality in research. Data visualization could facilitate study designs focused on disease subtypes/modes to help understand person–person differences and personalized medicine.


Mathematics ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 603
Author(s):  
Leonid Hanin

I uncover previously underappreciated systematic sources of false and irreproducible results in natural, biomedical and social sciences that are rooted in statistical methodology. They include the inevitably occurring deviations from basic assumptions behind statistical analyses and the use of various approximations. I show through a number of examples that (a) arbitrarily small deviations from distributional homogeneity can lead to arbitrarily large deviations in the outcomes of statistical analyses; (b) samples of random size may violate the Law of Large Numbers and thus are generally unsuitable for conventional statistical inference; (c) the same is true, in particular, when random sample size and observations are stochastically dependent; and (d) the use of the Gaussian approximation based on the Central Limit Theorem has dramatic implications for p-values and statistical significance essentially making pursuit of small significance levels and p-values for a fixed sample size meaningless. The latter is proven rigorously in the case of one-sided Z test. This article could serve as a cautionary guidance to scientists and practitioners employing statistical methods in their work.


2016 ◽  
Vol 11 (4) ◽  
pp. 551-554 ◽  
Author(s):  
Martin Buchheit

The first sport-science-oriented and comprehensive paper on magnitude-based inferences (MBI) was published 10 y ago in the first issue of this journal. While debate continues, MBI is today well established in sport science and in other fields, particularly clinical medicine, where practical/clinical significance often takes priority over statistical significance. In this commentary, some reasons why both academics and sport scientists should abandon null-hypothesis significance testing and embrace MBI are reviewed. Apparent limitations and future areas of research are also discussed. The following arguments are presented: P values and, in turn, study conclusions are sample-size dependent, irrespective of the size of the effect; significance does not inform on magnitude of effects, yet magnitude is what matters the most; MBI allows authors to be honest with their sample size and better acknowledge trivial effects; the examination of magnitudes per se helps provide better research questions; MBI can be applied to assess changes in individuals; MBI improves data visualization; and MBI is supported by spreadsheets freely available on the Internet. Finally, recommendations to define the smallest important effect and improve the presentation of standardized effects are presented.


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