scholarly journals 890: Clinical outcomes of genome-wide cfDNA for cases screening positive for trisomy 9

2019 ◽  
Vol 220 (1) ◽  
pp. S577
Author(s):  
Erica L. Soster ◽  
Theresa Boomer
Keyword(s):  
Clinical Outcomes ◽  
Genome Wide ◽  
Trisomy 9

A Caution in Association of ABO Blood Group with COVID-19

2020 ◽  
Keyword(s):  
Gene Cluster ◽  
Clinical Outcomes ◽  
Blood Group ◽  
Association Analysis ◽  
Blood Type ◽  
Genome Wide Association ◽  
Chromosome 3 ◽  
Abo Blood Group ◽  
Genome Wide Association Analysis ◽  
Genome Wide

A comment on Zhao J, Yang Y, Huang H, Li D, Gu D, Lu X, et al. Association of ABO blood group and Covid19 susceptability. medRxiv [PREPRINT]. 2020; https://doi.org/10.1101/2020.03.11.20031096. Zeng X, Fan H, Lu D, Huang F, Meng X, Li Z, et al. Association between ABO blood group and clinical outcomes of Covid19. medRxiv[PREPRINT].2020; https://doi.org/10.1101/2020.04.15.20063107. Zietz M, Tatonetti N. Testing the association between blood type and COVID-19 infection, intubation, and death medRxiv [PREPRINT]. 2020; https://doi.org/10.1101/2020.04.08.20058073. Ellinghaus D, Degenhardt F, Bujanda L, al. e. The ABO blood group and a chromosome 3 gene cluster associate with SRAS-CoV2 respitarory failure in an Italy-Spain genome-wide association analysis. medRxiv. 2020; https://doi.org/10.1101/2020.05.31.20114991.

Genomic characterisation of multiple myeloma: study of a Portuguese cohort

2021 ◽  
pp. jclinpath-2020-207204
Author(s):  
Alexandra Couto Oliveira ◽  
Ilda Patrícia Ribeiro ◽  
Luís Miguel Pires ◽  
Ana Cristina Gonçalves ◽  
Artur Paiva ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Practice ◽  
Prognostic Value ◽  
Clinical Presentation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Genomic Alterations ◽  
Genomic Complexity ◽  
Genome Wide ◽  
Trisomy 9

Multiple myeloma (MM) genomic complexity reflects in the variable patients’ clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients’ clinical practice. These genomic alterations should be further assessed as possible biomarkers.

scholarly journals Genome‐wide DNA methylome analysis reveals methylation subtypes with different clinical outcomes for acute myeloid leukemia patients

2020 ◽  
Vol 9 (17) ◽  
pp. 6296-6305 ◽  
Author(s):  
Haiyan Gao ◽  
Xin He ◽  
Qiang Li ◽  
Ying Wang ◽  
Yaoyao Tian ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Clinical Outcomes ◽  
Myeloid Leukemia ◽  
Dna Methylome ◽  
Genome Wide ◽  
Methylome Analysis ◽  
Acute Myeloid

scholarly journals An integrative analysis of genome-wide 5-hydroxymethylcytosines in circulating cell-free DNA detects non-invasive diagnostic markers for gliomas

2021 ◽  
Author(s):  
Jiajun Cai ◽  
Chang Zeng ◽  
Wei Hua ◽  
Zengxin Qi ◽  
Yanqun Song ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Idh1 Mutation ◽  
Healthy Individuals ◽  
Cell Free Dna ◽  
Mutation Status ◽  
Non Invasive ◽  
Free Dna ◽  
Genome Wide ◽  
Validation Set ◽  
Circulating Cell Free Dna

Abstract Background Gliomas, especially the high-grade glioblastomas (GBM), are highly aggressive tumors in the central nervous system (CNS) with dismal clinical outcomes. Effective biomarkers, which are not currently available, may improve clinical outcomes through early detection. We sought to develop a non-invasive diagnostic approach for gliomas based on 5-hydroxymethylcytosines (5hmC) in circulating cell-free DNA (cfDNA). Methods We obtained genome-wide 5hmC profiles using the 5hmC-Seal technique in cfDNA samples from 111 prospectively enrolled patients with gliomas and 111 age-, gender-matched healthy individuals, which were split into a training set and a validation set. Integrated models comprised of 5hmC levels summarized for gene bodies, long non-coding RNAs (lncRNAs), cis-regulatory elements, and repetitive elements were developed using the elastic net regularization under a case-control design. Results The integrated 5hmC-based models differentiated healthy individuals from gliomas (AUC [area under the curve] = 84%; 95% confidence interval [CI], 74-93%), GBM patients (AUC = 84%; 95% CI, 74-94%), WHO II-III glioma patients (AUC = 86%; 95% CI, 76-96%), regardless of IDH1 (encoding isocitrate dehydrogenase) mutation status or other glioma-related pathological features such as TERT, TP53 in the validation set. Furthermore, the 5hmC biomarkers in cfDNA showed the potential as an independent indicator from IDH1 mutation status and worked in synergy with IDH1 mutation to distinguish GBM from WHO II-III gliomas. Exploration of the 5hmC biomarkers for gliomas revealed relevance to glioma biology. Conclusions The 5hmC-Seal in cfDNA offers the promise as a non-invasive approach for effective detection of gliomas in a screening program.

scholarly journals Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China

2017 ◽  
Vol 42 (4) ◽  
pp. 1342-1357 ◽  
Author(s):  
Cheng-kun Yang ◽  
Ting-dong Yu ◽  
Chuang-ye Han ◽  
Wei Qin ◽  
Xi-wen Liao ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Candidate Genes ◽  
Clinical Outcomes ◽  
Genome Wide Association Study ◽  
Southern China ◽  
Immunohistochemical Analysis ◽  
High Rate ◽  
Ki 67 ◽  
Genome Wide ◽  
B Virus

Background/Aims: Hepatocellular carcinoma (HCC) is a common malignant tumor with a high rate of recurrence. Immunohistochemical analysis of the marker of proliferation Ki-67 (MKI67) is used to assess proliferation activity of HCC The regulation of MKI67 expression remains unclear in HCC This study aims to explore the association between MKI67 expression and gene variants. Methods: A total of 195 hepatitis B virus (HBV)-related HCC patients were genotyped using Illumina HumanExome BeadChip-12-1_A (242,901 markers). An independent cohort (97 subjects) validated the association of polymorphism determinants and candidate genes with MKI67 expression. The relationships between MKI67 with p53 and variants of candidate genes in the clinical outcomes of HCC patients were analyzed. Results: We found that MKI67 combined with p53 was associated with a 3-year recurrence-free survival and five variants near TTN and CCDC8 were associated with MKI67 expression. TTN harboring rs2288563-TT and rs2562832-AA+CA indicated a favorable outcome for HCC patients. Conclusion: Variants near TTN and CCDC8 were associated with MKI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in HBV-related HCC patients.

scholarly journals Clinical Outcomes and Genome-Wide Association for a Brain Methylation Site in an Antidepressant Pharmacogenetics Study in Mexican Americans

2014 ◽  
Vol 171 (12) ◽  
pp. 1297-1309 ◽  
Author(s):  
Ma-Li Wong ◽  
Chuanhui Dong ◽  
Deborah L. Flores ◽  
Monika Ehrhart-Bornstein ◽  
Stefan Bornstein ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Mexican Americans ◽  
Genome Wide Association ◽  
Methylation Site ◽  
Genome Wide

scholarly journals HumanMethylation450K Array–Identified Biomarkers Predict Tumour Recurrence/Progression at Initial Diagnosis of High-risk Non-muscle Invasive Bladder Cancer

2018 ◽  
Vol 10 ◽  
pp. 1179299X1775192 ◽  
Author(s):  
Mark O Kitchen ◽  
Richard T Bryan ◽  
Richard D Emes ◽  
Christopher J Luscombe ◽  
KK Cheng ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Bladder Cancer ◽  
High Risk ◽  
Clinical Outcomes ◽  
Patient Management ◽  
Initial Diagnosis ◽  
Invasive Bladder Cancer ◽  
Muscle Invasive Bladder Cancer ◽  
Genome Wide ◽  
Muscle Invasive

Background: High-risk non-muscle invasive bladder cancer (HR-NMIBC) is a clinically unpredictable disease. Despite clinical risk estimation tools, many patients are undertreated with intra-vesical therapies alone, whereas others may be over-treated with early radical surgery. Molecular biomarkers, particularly DNA methylation, have been reported as predictive of tumour/patient outcomes in numerous solid organ and haematologic malignancies; however, there are few reports in HR-NMIBC and none using genome-wide array assessment. We therefore sought to identify novel DNA methylation markers of HR-NMIBC clinical outcomes that might predict tumour behaviour at initial diagnosis and help guide patient management. Patients and methods: A total of 21 primary initial diagnosis HR-NMIBC tumours were analysed by Illumina HumanMethylation450 BeadChip arrays and subsequently bisulphite Pyrosequencing. In all, 7 had not recurred at 1 year after resection and 14 had recurred and/or progressed despite intra-vesical BCG. A further independent cohort of 32 HR-NMIBC tumours (17 no recurrence and 15 recurrence and/or progression despite BCG) were also assessed by bisulphite Pyrosequencing. Results: Array analyses identified 206 CpG loci that segregated non-recurrent HR-NMIBC tumours from clinically more aggressive recurrence/progression tumours. Hypermethylation of CpG cg11850659 and hypomethylation of CpG cg01149192 in combination predicted HR-NMIBC recurrence and/or progression within 1 year of diagnosis with 83% sensitivity, 79% specificity, and 83% positive and 79% negative predictive values. Conclusions: This is the first genome-wide DNA methylation analysis of a unique HR-NMIBC tumour cohort encompassing known 1-year clinical outcomes. Our analyses identified potential novel epigenetic markers that could help guide individual patient management in this clinically unpredictable disease.

Selecting Skills To Teach Communication Partners: Where Do I Start?

2012 ◽  
Vol 21 (4) ◽  
pp. 127-135 ◽  
Author(s):  
Cathy Binger ◽  
Jennifer Kent-Walsh
Keyword(s):  
Clinical Outcomes ◽  
Intervention Program ◽  
Communication Partners ◽  
Multiple Challenges

Abstract Clinicians and researchers long have recognized that teaching communication partners how to provide AAC supports is essential to AAC success. One way to improve clinical outcomes is to select appropriate skills to teach communication partners. Although this sometimes seems like it should be a straightforward component of any intervention program, deciding which skills to teach partners can present multiple challenges. In this article, we will troubleshoot common issues and discuss how to select skills systematically, resulting in the desired effects for both communication partners and clients.

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