scholarly journals Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients

2016 ◽  
Vol 12 (1) ◽  
pp. 421-428 ◽  
Author(s):  
JUN YANG ◽  
WEI QING LIU ◽  
WEN LIANG LI ◽  
CHENG CHEN ◽  
ZHU ZHU ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Cost Effective ◽  
Germline Mutations ◽  
Adenomatous Polyposis ◽  
Potential Cost ◽  
Cost Effective Method

A virtual multi-disciplinary meeting is a cost-effective method of triaging referrals to a regional musculoskeletal oncology service

2021 ◽  
pp. 003693302110085
Author(s):  
Omer MHF Alanie ◽  
Ashish Mahendra ◽  
Mairi Mackinnon ◽  
Mark McCleery ◽  
Christopher Nicholas ◽  
...  
Keyword(s):  
Screening Tool ◽  
Discharge Rate ◽  
Cost Effective ◽  
Risk Environment ◽  
Potential Cost ◽  
Patient Journey ◽  
Cost Effective Method ◽  
Diagnosis Of Cancer ◽  
Musculoskeletal Oncology ◽  
Prospective Database

Background and aims In 2010, a virtual sarcoma referral model was implemented, which aims to provide a centralised multidisciplinary team (MDT) to provide rapid advice, avoiding unnecessary appointments and providing a streamlined service. The aim of this study is to examine the feasibility of this screening tool in reducing the service burden and expediting patient journey. Methods and results All referrals made to a single tertiary referral sarcoma unit from January 2010 to December 2018 were extracted from a prospective database. Only 26.0% events discussed required review directly. 30.3% were discharged back to referrer. 16.5% required further investigations. 22.5% required a biopsy prior to review. There was a reduction in the rate of patients reviewed at the sarcoma clinic, and a higher discharge rate from the MDT in 2018 versus 2010 (p < 0.001). This gives a potential cost saving of 670,700 GBP over the 9 year period. Conclusion An MDT meeting which triages referrals is cost-effective at reducing unnecessary referrals. This can limit unnecessary exposure of patients who may have an underlying diagnosis of cancer to a high-risk environment, and reduces burden on services as it copes with increasing demands during the COVID-19 pandemic.

Evaluation of maize microsatellite markers for genetic diversity analysis and fingerprinting in sugarcane

Genome ◽  
2003 ◽  
Vol 46 (3) ◽  
pp. 394-403 ◽  
Author(s):  
A Selvi ◽  
N V Nair ◽  
N Balasundaram ◽  
T Mohapatra
Keyword(s):  
Microsatellite Markers ◽  
Cost Effective ◽  
Diversity Analysis ◽  
Phenetic Analysis ◽  
Potential Cost ◽  
Banding Patterns ◽  
Genomic Libraries ◽  
Cost Effective Method ◽  
Low Diversity ◽  
Species Specific

The use of maize microsatellite markers as a potential cost-effective method for molecular analysis of sugarcane was evaluated. Of the 34 primer pairs obtained from maize genomic libraries, 14 showed repeatable amplifications in Saccharum species clones, commercial hybrids, and the related genera Erianthus, accounting for 41.17% cross transferability. Complex banding patterns were encountered in sugarcane with the number of amplified fragments ranging from 7 to 14 with an average of 10 per primer, indicating the high polyploidy and heterozygosity existing in sugarcane. Phenetic analysis of the SSR polymorphisms produced by nine primers could clearly differentiate the different species of Saccharum and Erianthus and revealed the relationships that existed between them. Genetic similarity co-efficient indicated low diversity existing among the S. officinarum clones (82%) and a relatively higher level of diversity in the S. spontaneum clones (69.7%). Higher level of divergence of Erianthus from Saccharum was also clearly estabilished. Five primers produced genus- and species-specific fragments for Erianthus, S. spontaneum, S. officinarum, and S. barberi. The polymorphic primers, when tested on a panel of 30 commercial sugarcane cultivars, revealed a broad range (32.4–83.3%) of pair-wise similarity values, indicating their ability to detect high levels of polymorphism. A combination of two primers could differentiate all the varieties, further emphasizing their potential in fingerprinting and varietal identification.Key words: maize microsatellites, Saccharum, Erianthus, diversity analysis, fingerprinting.

scholarly journals Familial Adenomatous Polyposis—Rendering a Diagnosis Based on Recognition of an Unusual Primary Thyroid Neoplasm

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
David F. Schaeffer ◽  
Eric M. Yoshida ◽  
David A. Owen ◽  
Kenneth W. Berean
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Clinical Features ◽  
Germline Mutations ◽  
Initial Diagnosis ◽  
Thyroid Neoplasm ◽  
Adenomatous Polyposis ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant

It has been well established in the literature that the cribriform-morular variant of papillary thyroid carcinoma (CMVPTC) has been observed with higher frequency in familial adenomatous polyposis (FAP) patients. In the usual setting, patients with FAP are identified based on their germline mutations and the diagnosis of thyroid neoplasm is made after the FAP diagnosis. We herein report a case in which the recognition of a CMVPTC led to the initial diagnosis of FAP. The histological and clinical features of CMVPTC are reviewed with emphasis on its relationship to FAP.

Variable Phenotypic Expression of Identical MYH Germline Mutations in Siblings with Attenuated Familial Adenomatous Polyposis

2007 ◽  
Vol 73 (12) ◽  
pp. 1250-1253 ◽  
Author(s):  
Mustafa Raoof ◽  
Robert J. Canter ◽  
Philip B. Paty
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Locally Advanced ◽  
Phenotypic Expression ◽  
Clinical Manifestations ◽  
Colon Adenocarcinoma ◽  
Colonic Polyps ◽  
Germline Mutations ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Myh Gene

Germline mutations in the Mutant-Y-homologue (MYH) gene have been linked to an attenuated form of familial adenomatous polyposis in patients who express a wild-type adenomatous polyposis coli gene. However, the diverse clinical manifestations of MYH mutations have not been fully elucidated. We report a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced colon adenocarcinoma with few other adenomatous lesions, whereas the other had numerous benign colonic polyps. The variable genotype–phenotype manifestations of MYH mutations and the attenuated familial adenomatous polyposis syndrome are discussed.

Sign in / Sign up

Export Citation Format

Share Document