scholarly journals Family Aggregation of High Myopia: Estimation of the Sibling Recurrence Risk Ratio

2004 ◽  
Vol 45 (9) ◽  
pp. 2873 ◽  
Author(s):  
Jane E. Farbrother ◽  
George Kirov ◽  
Michael J. Owen ◽  
Jeremy A. Guggenheim
2011 ◽  
Vol 52 (5) ◽  
pp. 2551 ◽  
Author(s):  
Danny Mitry ◽  
Linda Williams ◽  
David G. Charteris ◽  
Brian W. Fleck ◽  
Alan F. Wright ◽  
...  

BMC Genetics ◽  
2003 ◽  
Vol 4 (Suppl 1) ◽  
pp. S33 ◽  
Author(s):  
Wei J Chen ◽  
Pi-Hua Liu ◽  
Yen-Yi Ho ◽  
Kuo-Liong Chien ◽  
Min-Tzu Lo ◽  
...  

2013 ◽  
pp. 1633-1633
Author(s):  
Kristine M. Molina ◽  
Kristine M. Molina ◽  
Heather Honoré Goltz ◽  
Marc A. Kowalkouski ◽  
Stacey L. Hart ◽  
...  

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e14548-e14548
Author(s):  
Hideyasu Sakihama ◽  
Nozomi Kobayashi ◽  
Nozomi Minagawa ◽  
Tatsushi Shimokuni ◽  
Shigenori Homma ◽  
...  

e14548 Background: Although the presence of CTC or DTC is proposed as a pridictive or a prognostic marker in the management of colorectal carcinoma patients, it is still well unknown what is different of both types of cells. The aim of this study is to compare CTC and DTC as a predictive marker for tumor recurrence by magnetic activated cell sorting system. Methods: Peripheral blood (PB) samples (n=139) and bone marrow (BM) samples (n=41) were preoperatively collected from colorectal carcinoma patients between February 2009 and March 2012. PB samples were obtainable from all patients who provided their BM samples (n=41). Enrichment of CTC was performed by direct immunomagnetic labeling of EpCAM + cells in PB. Enrichment of DTC was done by negative selection of CD45+cells. Subsequently, double immunofluorescences staining for cytokeratin and CD45 was performed to detect CTC or DTC. PB samples from 20 healthy volunteers and BM samples from 3 patients with benign disease were used as controls. Median follow-up time is 28.5 months (range 10-44). Written informed consent was obtained from all enrolled patients. Results: Preoperative positive rates of CTC and DTC were 20.9% (29/139) and 29.3% (12/41), respectively. No CTC or DTC was found in the control groups. In DTC+patients, only 4 patients were positive for CTC (33.3%), whereas 31% of DTC- patients had CTC. We found 13 patients who experienced postoperative recurrence among 139 patients, 7 patients of whom were CTC positive (53.8%). There is a significant higher incidence of recurrence in CTC+patients (risk ratio=4.4, p<0.01). As for DTC, we found 5 patients with recurrence in 41 patients, 4 patients of whom were DTC positive (80%). DTC+ patients have a significant risk of recurrence (risk ratio=9.7, p=0.01). The relationship of CTC / DTC status and the recurrence rates is as follows: 50 % in CTC+/DTC+ patients (2/4); 11.1% in CTC+/DTC- patients (1/9); 25% in CTC-/DTC+ patients (2/8); 0% in CTC-/DTC-patients (0/20). Conclusions: DTC status is more predictive for postoperative recurrence than CTC status. The combination of CTC and DTC analysis might predict recurrence risk more accurately than either of the two analyses.


Author(s):  
Jean Mathieu ◽  
Gilles Hébert ◽  
Louis Pérusse ◽  
Claude Prévost ◽  
Léo Cantin ◽  
...  

ABSTRACT:Background:The Saguenay-Lac-Saint-Jean (SLSJ) region is a geographically isolated area (population 285,955) located in the Northeastern part of the Province of Quebec, Canada. Using a population-based register, the genealogical reconstruction of 502 individuals with ruptured intracranial aneurysm (RIA) showed a familial aggregation (the presence of aneurysm in two or more first- to third-degree relatives) for 144 (28.7%) of them; this proportion is much higher than reported elsewhere.Objective:In order to assess the genetic predisposition to RIA in the SLSJ population, the objective of the present study is to compare familial and non-familial cases and to provide an estimate of the recurrence risk ratio for siblings.Results:The age at the time of rupture, the number of intracranial aneurysms for each patient and the location of RIAs were not statistically different in the familial versus the non-familial group. Of the 3449 siblings, 20 (0.58%) had suffered a RIA. The recurrence risk ratio calculated for siblings (defined as the risk of disease among siblings divided by the estimated population prevalence) is 1.6 (CI 95% 1.0 - 2.4). In other respects, we observed very large kinships in the SLSJ population, with an average number of siblings of 7.2 (SD ± 3.4), ranging from 0 to 17 individuals. With such large families and on the basis of chance alone, we expected 31.3% of the patients to have at least one first- to third-degree relative with RIA.Conclusion:These data show that siblings of patients with RIA in the SLSJ population have a greater risk of RIA than the general population. Nevertheless, the largest part of the familial occurrence observed in the SLSJ region can be explained by accidental aggregation, due to large kinships. We propose that, in this population, an underlying genetic predisposition must be suspected only when three or more cases of RIA are identified among first- to third-degree relatives.


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