A Novel Approach to Search for Identity by Descent in Small Samples of Patients and Controls from the Same Mendelian Breeding Unit: A Pilot Study on Myopia

2001 ◽  
Vol 52 (4) ◽  
pp. 183-190 ◽  
Author(s):  
Simon Heath ◽  
Renato Robledo ◽  
William Beggs ◽  
Gaetano Feola ◽  
Carlo Parodo ◽  
...  
Biology ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 711
Author(s):  
Assaf Moore ◽  
Marc J. Kindler ◽  
Aaron Max Allen

Malignant pleural mesothelioma (MPM) is a deadly disease and radiotherapy (RT) plays an important role in its management. Recent developments in technique have made it is possible to deliver RT to MPM in the intact lung. However, it is imperative to reduce normal lung doses. We present a pilot study examining the use of CPAP and VMAT radiotherapy to reduce toxicity when treating MPM, involving three consecutive patients with MPM, not amenable to surgery, who were treated according to Helsinki committee approval. Patients were simulated using four-dimentional CT simulation with the assistance of CPAP lung inflation, then were treated using both IMRT and VMAT techniques. Radiation lung dose was optimized based on accepted lung dose constraints. Patients were followed for toxicity as well as local control and survival. Results: Three patients were treated with CPAP-based IMRT treatment. These patients tolerated the treatment and DVH constraints were able to be met. The comparison plans among the four VMAT arcs and the IMRT static field treatment were able to accomplish the treatment planning objectives without significant advantages with either technique. The treatment combined with CPAP reduced the normal lung dose in MPM patients with intact lungs. This technique is worthy of further investigation.


2014 ◽  
Vol 27 (1) ◽  
pp. 57
Author(s):  
M. Edwards ◽  
C. Rickard ◽  
I. Rapchuk ◽  
A. Corley ◽  
N. Marsh ◽  
...  

2007 ◽  
Vol 102 (8) ◽  
pp. 1640-1645 ◽  
Author(s):  
Edgardo Diaz-Cervantes ◽  
Antonio De-la-Torre-Bravo ◽  
Stuart Jon Spechler ◽  
Ernesto Torres-Durazo ◽  
Sergio Sobrino-Cossio ◽  
...  

Urology ◽  
2016 ◽  
Vol 87 ◽  
pp. 210-215 ◽  
Author(s):  
Mustafa Güneş ◽  
Muammer Altok ◽  
Alime Güneş ◽  
Mehmet Umul ◽  
Zafer Özyıldız ◽  
...  

2021 ◽  
Author(s):  
Adam J. Berlinberg ◽  
Ana Brar ◽  
Andrew Stahly ◽  
Mark E. Gerich ◽  
Blair P. Fennimore ◽  
...  

Newer ‘omics approaches such as metatranscriptomics and metabolomics allow functional assessments of the interaction(s) between the gut microbiome and the human host. In order to generate meaningful data with these approaches, though, the method of sample collection is critical. Prior studies have relied upon expensive and invasive means towards sample acquisition such as intestinal biopsy, while other studies have relied upon easier methods of collection such as fecal samples that do not necessarily represent those microbes in contact with the host. In this pilot study, we attempt to characterize a novel, minimally invasive method towards sampling the human microbiome using mucosal cytology brush sampling compared to intestinal gut biopsy on 5 healthy participants undergoing routine screening colonoscopy. We compared metatranscriptomic analyses between the two collection methods, identifying increased taxonomic evenness and beta diversity in the cytology brush samples, and similar community transcriptional profiles between the two methods. Metabolomics assessment demonstrated striking differences between the two methods, implying a difference in bacterial-derived versus human absorbed metabolites. Put together, this study supports the use of a less invasive method of microbiome sampling with cytology brushes, but caution must be exercised when performing metabolomics assessment as this represents differential metabolite production but not absorption by the host.


2018 ◽  
Author(s):  
Dayana A. Delgado ◽  
Chenan Zhang ◽  
Kathryn Demanelis ◽  
Lin S. Chen ◽  
Jianjun Gao ◽  
...  

ABSTRACTLeukocyte telomere length (LTL) is a heritable trait with two potential sources of heritability (h2): inherited variation in non-telomeric regions (e.g., SNPs that influence telomere maintenance) and variability in the lengths of telomeres in gametes that produce offspring zygotes (i.e., “direct” inheritance). Prior studies of LTL h2have not attempted to disentangle these two sources. Here, we use a novel approach for detecting the direct inheritance of telomeres by studying the association between identity-by-descent (IBD) sharing at chromosome ends and phenotypic similarity in LTL. We measured genome-wide SNPs and LTL for a sample of 5,069 Bangladeshi adults with substantial relatedness. For each of the 7,254 relative pairs identified, we used SNPs near the telomeres to estimate the number of chromosome ends shared IBD, a proxy for the number of telomeres shared IBD (Tshared). We then estimated the association between Tsharedand the squared pairwise difference in LTL ((ΔLTL)2) within various classes of relatives (siblings, avuncular, cousins, and distant), adjusting for overall genetic relatedness (ϕ). The association between Tsharedand (ΔLTL)2was inverse among all relative pair types. In a meta-analysis including all relative pairs (ϕ >0.05), the association between Tsharedand (ΔLTL)2(P=0.002) was stronger than the association between ϕ and (ΔLTL)2(P=0.45). Our results provide strong evidence that telomere length (TL) in parental germ cells impacts TL in offspring cells and contributes to LTL h2despite telomere “reprogramming” during embryonic development. Applying our method to larger studies will enable robust estimation of LTL h2attributable to direction transmission.


1988 ◽  
Vol 18 (2) ◽  
pp. 311-322 ◽  
Author(s):  
Michael Calnan

Sociologists appear to differ in the way they portray the public's ideas about modern medicine. Some argue that the public accepts that modern medicine is effective, and others say that as a whole the public is skeptical about its value. There is a dearth of empirical evidence about what the public thinks of modern medicine; this pilot study attempts to fill this gap. Tape-recorded interviews were carried out with small samples of women from Social Classes I and II and Classes IV and V to find out what they felt about the value of modern medicine and to identify the criteria that they used to assess a “good” and “bad” medical practitioner. The results showed that there is some degree of skepticism about the value of modern medicine, particularly amongst working-class people. However, the criteria for assessing the performance of a medical practitioner were only rarely seen to be tied up with the criteria used to assess the value of modern medicine.


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