Investigating parent of origin effects (POE) and anticipation in Irish Lynch syndrome kindreds.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1542-1542 ◽  
Author(s):  
Michael P. Farrell ◽  
David J. Hughes ◽  
Jasmin Schmid ◽  
Philip S. Boonstra ◽  
Bhramar Mukherjee ◽  
...  

1542 Background: Genetic diseases associated with dynamic mutations often display parent-of-origin effects (POE) in which the risk of disease depends on the sex of the parent from whom the disease allele was inherited. Genetic anticipation describes the progessively earlier onset and increased severity of disease in successive generations of a family. Previous studies have provided limited evidence for and against both POE effect and anticipation in Lynch syndrome (LS). We sought evidence for a specific POE effect and anticipation in Irish LS families. Methods: Affected parent-child pairs (APCPs) (N = 53) were evaluated from LS kindreds (N = 20) from two hospital-based registries and one cancer genetic centre. POE were investigated by studying the ages at diagnosis in the offspring of affected parent-child pairs. Anticipation was assessed by a paired t-test, and bivariate Huang and Vieland model. Results: See Table. Paired t-test revealed anticipation with children developing cancer mean 11.8 years earlier than parents, and 12.7 years using the Huang and Vieland model (p < 0.001). Conclusions: These data demonstrate a similar age at diagnosis among all offspring of affected mothers that was indistinguishable from affected fathers. Affected sons of affected mothers were diagnosed with cancer almost 3 years younger than female offspring; however, this finding failed to reach statistical significance. Evidence of anticipation was suggested in this cohort, emphasizing the importance of early-onset screening. Addition LS families are under review and updated data will be presented at the meeting. [Table: see text]

2013 ◽  
Vol 31 (4_suppl) ◽  
pp. 431-431
Author(s):  
Michael P. Farrell ◽  
David J. Hughes ◽  
Jasmin Schmid ◽  
Philip S. Boonstra ◽  
Bhramar Mukherjee ◽  
...  

431 Background: Genetic diseases associated with dynamic mutations often display parent-of-origin effects (POEs) in which the risk of disease depends on the sex of the parent from whom the disease allele was inherited. Genetic anticipation describes the progressively earlier onset and increased severity of disease in successive generations of a family. Previous studies have provided limited evidence for and against both POE effect and anticipation in Lynch syndrome. We sought evidence for a specific POE effect and anticipation in Irish Lynch syndrome families. Methods: Affected parent-child pairs (APCPs) (N = 53) were evaluated from kindreds (N = 20) from two hospital-based registries of MMR mutation carriers. POE were investigated by studying the ages at diagnosis in the offspring of affected parent-child pairs. Anticipation was assessed using the bivariate Huang and Vieland model. Results: Paired t-test revealed anticipation with children developing cancer mean 11.8 years earlier than parents, and 12.7 years using the Veiland and Huang bivariate model (p < 0.001). Conclusions: These data demonstrate a similar age at diagnosis among all offspring of affected mothers that was indistinguishable from affected fathers. Affected sons of affected mothers were diagnosed with cancer almost 3 years younger than female offspring; however, this finding failed to reach statistical significance. Genetic anticipation was present in this cohort of LS families, emphasizing the importance of early-onset screening. An additional 60 LS kindreds are under review and updated data will be presented at the meeting. [Table: see text]


2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e12031-e12031
Author(s):  
Michael P. Farrell ◽  
David J. Hughes ◽  
Jasmin Schmid ◽  
Philip S Boonstra ◽  
Bhramar Mukherjee ◽  
...  

e12031 Background: Genetic diseases associated with dynamic mutations often display parent-of-origin effects (POEs) in which the risk of disease depends on the sex of the parent from whom the disease allele was inherited. Genetic anticipation describes the progressively earlier onset and increased severity of disease in successive generations of a family. We sought evidence for a specific POE effect in Lynch syndrome families by studying the ages at diagnosis in the offspring of affected parent-child pairs. In addition, a paired t-test and a specifically developed bivariate statistical approach were used to assess a possible role of anticipation. Methods: Affected parent-child pairs (APCPs) (N = 53) were evaluated from kindreds (N = 20) with known germline MMR mutations. Differences in the mean age of LS associated cancer diagnosis were compared between various groups via t-tests: all p-values were 2-sided. Different group comparisons include: (1) unique parental ages (mothers vs. fathers) (2) affected offspring ages (mothers vs. fathers (3) age of affected female offspring (mothers vs. fathers (4) age of affected male offspring (mothers vs. fathers. Results: There were no statistically significant differences in diagnosis of offspring or parents. Sons of affected mothers were more likely to be affected than daughters of affected mothers. However, the affected cohort/study number is small and while affected sons of affected mothers were diagnosed with cancer almost 3 years younger than female offspring (39.7 vs 42.5), this finding failed to reach clinical significance. Comparison in age at diagnosis in 53 affected parent-child pairs with Lynch syndrome associated malignancies Conclusions: These data demonstrate a similar age at diagnosis among all offspring of affected mothers that was indistinguishable from affected fathers. This study will be expanded to recruit more eligible affected parent child pairs to increase the power of this evaluation. The Veiland & Huang algorithm will be used to compare mean ages of affected parents and children.


2014 ◽  
Vol 08 (03) ◽  
pp. 381-388 ◽  
Author(s):  
Rahul Ganavadiya ◽  
B. R. Chandra Shekar ◽  
Pankaj Goel ◽  
Sudheer G. Hongal ◽  
Manish Jain ◽  
...  

ABSTRACT Objective: The aim of this study was to compare the anti-plaque efficacy of a low and high cost commercially available tooth paste among 13-20 years old adolescents in a Residential Home, Bhopal, India. Materials and Methods: The study was randomized double-blind parallel clinical trial conducted in a Residential Home, Bhopal, India. A total of 65 patients with established dental plaque and gingivitis were randomly assigned to either low cost or high cost dentifrice group for 4 weeks. The plaque and gingival scores at baseline and post-intervention were assessed and compared. Statistical analysis was performed using paired t-test and the independent sample t-test. The statistical significance was fixed at 0.05. Results: Results indicated a significant reduction in plaque and gingival scores in both groups post-intervention compared with the baseline. Difference between the groups was not significant. No adverse events were reported and both the dentifrices were well-tolerated. Conclusion: Low cost dentifrice is equally effective to the high cost dentifrice in reducing plaque and gingival inflammation.


Author(s):  
S. Periyasamy

<div><p><em>NIFTY is the bellwether index followed by most of the traders in Indian stock markets. The turnover in the S&amp;P CNX NIFTY constituent shows that the scripts are mostly traded on every session of trading. The study is carried out to check the semi moth effect in S&amp;P CNX NIFTY which may helpful for retail investors to make investment decision. This study is carried out using the monthly movement of S&amp;P CNX NIFTY index of NSE India Ltd for the period April 01, 2004 to March 31, 2015. The statistical significance of semi month effect is tested using descriptive statistics and paired “t” test. The outcome of the analysis shows that there is the presence of semi-month effect in index returns and suggestions to retail investors to time the investments based on the market movement.</em></p><p> </p></div>


2011 ◽  
Vol 87 ◽  
pp. 164-169
Author(s):  
Niwat Anuwongnukroh ◽  
Surachai Dechkunakorn ◽  
Chanjira Sinthanayothin ◽  
Lada Shinawatra

Objective: The aim of the study was to compare the manual tracing of lateral cephalometric radiographs with the use of cephalometric software obtained by 2 methods: use of a scanner and use of cameras to test the accuracy of measurement for clinical orthodontic diagnosis. Material and Methods: The original method of manual tracing was compared to 2 radiographic digitization methods: A) captured from a scanner, B) captured from digital cameras applied to 40 randomly selected cephalograms of orthodontic patients at Mahidol University. The digital images from cameras and scanner were analyzed with image processing software (CephSmile). The repeatability test was obtained for all methods, and the paired t-test determined the statistical significance between digitized images and original manual tracings for thirty-four measurements. Results: The paired t-test showed no significant differences among all 34 variables. Most mean differences were less than 0.25 mm and 0.25 degrees. Conclusion: The results demonstrated that there were no significant differences on measurement parameters for cephalometric analysis among manual tracing and computerized digital images from scanner and cameras.


2015 ◽  
Vol 5 ◽  
pp. 103-110
Author(s):  
Manish Suresh Agrawal ◽  
Jiwan Asha Manish Agrawal ◽  
Vivek Patni ◽  
Lalita Nanjannawar

Objective To determine the reliability of Computer Assisted Digital Cephalometric Analysis System (CADCAS) in terms of landmark identification on the values of cephalometric measurements in comparison with those obtained from original radiographs. Materials and Methods The study material consisted of Twenty five lateral cephalograms selected randomly, 16 cephalometric points together with 10 angular and 5 linear cephalometric measurements. The landmarks were manually picked on the tracing & the measurements of X &Y axis done with reference grid. The same tracing was digitized & image loaded in the software (ViewBox 3.1.1) was checked for the magnification (metal ruler) & distortion. The second part of the study compared manual and the CADCAS since the landmarks were manually digitized on screen as against the manually picked ones on the tracing paper. The x and y-coordinates for 16 landmarks were measured, mean and standard deviation calculated, linear and angular measurements compared. Statistical Analysis A paired t-test was done to calculate the statistical significance of the differences. Intraclass reliability coefficient (signifying reproducibility) of the variable was recorded. The observations were tabulated and analysis was done using the paired t test at a P value <0.05. Results Out of 47 variables looked for, 21 showed statistical significance. Direct digitization onscreen (CADCAS) was the quickest and least tedious method. CADCAS was unreliable with linear measurements involving bilateral structures such as Gonion & Articulare. Conclusions Both the methods are equally reliable and reproducible. The intra-class reliability coefficient of all variables differed only slightly, which is not clinically significant.


2020 ◽  
Vol 16 (2) ◽  
pp. 88-93
Author(s):  
Hye-Kyung Lee ◽  
Hii-Sun Jeong

Background: Older patients with pressure sores secondary to medical problems generally are not likely to become physically active again and are therefore rarely considered candidates for flap surgery. When surgeons decide whether to perform surgery in older individuals with multiple morbidities, they must weigh the risks of prolonged general anesthesia and the burdens of flap surgery against the benefits of the flap.Methods: This retrospective study included patients over 65 years of age who were treated at our clinic from May 2010 to August 2018 for grade III or IV pressure sores. They underwent either general wound care without flap coverage (debridement only) or complete flap coverage of the sore (debridement plus flap group). We compared changes in laboratory blood tests from pre-operation to post-operation.Results: A total of 63 patients were included, with 53 in the flap coverage group and 10 in the control group. Age, sex, and flap size were statistically similar between groups (P>0.05). The control group exhibited no significant laboratory changes after debridement. The flap coverage group exhibited statistically significant improvements in neutrophil percentage and C-reactive protein level postoperatively (P<0.05, paired t-test). Serum hemoglobin, albumin and electrolyte levels did not differ with statistical significance from pre-operation to post-operation in either group (P>0.05, Wilcoxon signed-rank test and paired t-test).Conclusion: As pressure sore coverage with flaps may have a positive effect on controlling inflammation, flap surgery could be a viable option for older patients with severe pressure sores.


Author(s):  
Manpreet Kaur

On November 8, 2016, Prime Minister Narendra Modi announced demonetization of Rs. 500 and Rs.1000 banknotes of the Mahatma Gandhi Series. This is required to tackle counterfeiting Indian banknotes, to effectively nullify black money hoarded in cash and curb funding of terrorism with fake notes. The present study examines the impact of demonetization decision on gold prices in India. It is studied by comparing the data of gold prices for 30 days, 15 days and 7 days before and after November 8, 2016. The data consists of daily prices of gold obtained from World Gold Council database. Paired t-test and wilcoxon signed ranks test are used to study the statistical significance of the results. It has been found that demonetization decision has significantly reduced the price of gold in India. It may be due to the reason that after demonetization announcement, income tax department tightened the noose around the jewellers as people rushed to convert their old currency notes (Rs. 500 and Rs. 1000) into precious metal gold. It resulted in dropping the price of gold in India in short run.


2014 ◽  
Vol 281 (1775) ◽  
pp. 20132388 ◽  
Author(s):  
Benjamin P. Oldroyd ◽  
Michael H. Allsopp ◽  
Katherine M. Roth ◽  
Emily J. Remnant ◽  
Robert A. Drewell ◽  
...  

Apis mellifera capensis is unique among honeybees in that unmated workers can produce pseudo-clonal female offspring via thelytokous parthenogenesis. Workers use this ability to compete among themselves and with their queen to be the mother of new queens. Males could therefore enhance their reproductive success by imprinting genes that enhance fertility in their daughter workers. This possibility sets the scene for intragenomic conflict between queens and drones over worker reproductive traits. Here, we show a strong parent-of-origin effect for ovary size (number of ovarioles) in reciprocal crosses between two honeybee subspecies, A. m. capensis and Apis mellifera scutellata. In this cross, workers with an A. m. capensis father had 30% more ovarioles than genotypically matched workers with an A. m. scutellata father. Other traits we measured (worker weight at emergence and the presence/absence of a spermatheca) are influenced more by rearing conditions than by parent-of-origin effects. Our study is the first to show a strong epigenetic (or, less likely, cytoplasmic maternal) effect for a reproductive trait in the honeybee and suggests that a search for parent-of-origin effects in other social insects may be fruitful.


THE GENESIS ◽  
2020 ◽  
Vol 7 (3) ◽  
Author(s):  
Mrs. Maninder Kaur brar ◽  
Ms. Seema Raghuvanshi ◽  
Ms. Seema Raghuvanshi

ABSTRACT Birth prevention includes various Methods and Services given by Government in order to control Pregnancy. Birth prevention approach include self-control, planned parenthood and everything Food. The Researcher selected a sample of 60 female of conceptive age group (18-45 years) using systematic random sampling technique. Analyses of facts and figures were done in accordance with the goals. Method of descriptive and inferential statistics was used, such as mean, percentage, probable error, correlation coefficient and paired t’-test, ANOVA test etc. Pie chart and graphic representations were used to describe the conclusion. Mean knowledge scores of pre-test and post-test for the subjects were used to compare by Paired ‘t’ test. ANOVA analyses were used to spot the effect of the selected variables on knowledge, and to find the statistical significance with variables. The Socioeconomic, analytical characteristics of the participant women in relation to determine the efficacy of organized guidance plan of understanding on family planning methods are shown. Structured teaching programme are the best method to impart knowledge. Key Words: Family Planning, Structured teaching Programme.


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