scholarly journals Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

2019 ◽  
Author(s):  
Samya Chakravorty ◽  
Kiera Berger ◽  
Dalia Arafat ◽  
Babi Ramesh Reddy Nallamilli ◽  
Hari Prasanna Subramanian ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Clinical Utility ◽  
Promoter Deletion ◽  
Gne Myopathy

Clinical utility of in depth RNA sequencing for non-metastatic triple negative breast cancers.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 1088-1088
Author(s):  
Benoit Thouvenot ◽  
Stephane Verdun ◽  
Julie Tomasina ◽  
Benoit Hilselberger ◽  
Marie Brulliard ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Clinical Utility ◽  
Triple Negative ◽  
Breast Cancers

Feasibility and clinical utility of EUS guided biopsy of pancreatic cancer for next-generation genomic sequencing.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15755-e15755
Author(s):  
Stephan Dreyer ◽  
Nigel Jamieson ◽  
Lisa Evers ◽  
Marc Jones ◽  
Sancha Martin ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Rna Sequencing ◽  
Clinical Utility ◽  
Frozen Section ◽  
Brca1 Mutation ◽  
Resected Specimen ◽  
Genomic Profiling ◽  
Next Generation ◽  
Fresh Frozen ◽  
Panel Sequencing

e15755 Background: Next-generation sequencing (NGS) has made genomic profiling to guide therapy a reality for many cancer types. The aim of this study is to investigate the feasibility of genomic profiling using standard clinical endoscopic ultrasound (EUS) core biopsy samples of Pancreatic Cancer (PC) to allow personalised cancer care. Methods:Patients undergoing EUS and biopsy for suspicion of PC underwent additional biopsies which was snap frozen. En-face frozen section enabled targeted macro-dissection prior to DNA extraction, quantification and targeted sequencing using a commercially available 151 gene ClearSeq Comprehensive Cancer Panel. Matching formalin-fixed (FFPE) diagnostic EUS biopsy and fresh frozen surgical resection specimens underwent genomic profiling for comparison. Whole genome sequencing (WGS) was performed in 2 patients. RNA sequencing was performed in samples with sufficient RNA yield. Results: Known PC genes ( KRAS, GNAS, TP53, CDKN2A, SMAD4) were identified in 27 out of 30 (90%) patients with histological diagnosis of PC. Potentially actionable somatic mutations (BRCA1, BRCA2, ATM, BRAF, JAK3) were found in 6 (20%) patients. In the 2 samples selected, WGS of the EUS samples confirmed point mutations identified on panel sequencing and revealed relevant mutational signatures and structural variation patterns. Targeted panel sequencing was successful in all FFPE samples. In 1 chemotherapy naïve patient, sequencing of a matching trio of fresh frozen and FFPE EUS biopsies, and resection sample revealed evidence of spatial intra-tumoral heterogeneity. In another patient, pre-treatment biopsy revealed a somatic BRCA1 mutation, and patient had a near complete pathological response to platinum containing neoadjuvant therapy in the resected specimen. RNA sequencing segregated patients into key clinically relevant molecular PC subtypes based on transcriptome as recently described. Conclusions: We demonstrate here novel multi-omic analysis of pancreatic cancer using standard clinical EUS guided fine needle biopsies. Multi-omic analysis of EUS biopsies offers potential clinical utility to guide personalized therapy of PC in the neoadjuvant and advanced settings.

Feasibility and clinical utility of EUS guided biopsy of pancreatic cancer for next-generation genomic sequencing.

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 296-296 ◽  
Author(s):  
Stephan Dreyer ◽  
Nigel Jamieson ◽  
Lisa Evers ◽  
Marc Jones ◽  
Sancha Martin ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Rna Sequencing ◽  
Clinical Utility ◽  
Frozen Section ◽  
Genomic Profiling ◽  
Next Generation ◽  
Next Generation Sequencing Technology ◽  
Fresh Frozen ◽  
Targeted Gene Sequencing ◽  
Panel Sequencing

296 Background: Next-generation sequencing technology has made genomic profiling guided therapy a reality for many cancer types. The aim of this study is to investigate the feasibility of genomic profiling using standard clinical endoscopic ultrasound (EUS) core biopsy samples of Pancreatic Cancer (PC) to allow personalised cancer care. Methods: 78 patients underwent additional research biopsy at the time of diagnostic EUS biopsy. En-face frozen section was performed to enable targeted macro-dissection prior to DNA extraction, quantification and targeted gene sequencing (Agilent Comprehensive Cancer Gene Panel). Matching formalin-fixed (FFPE) diagnostic EUS biopsies and fresh frozen surgical resection specimens also underwent genomic profiling for comparison. Whole genome (WGS) and RNA sequencing was performed in selected patients. Results: Targeted panel sequencing ( n = 61) revealed known PC genes ( KRAS, GNAS, TP53, CDKN2A, SMAD4) in 36 patients with histological evidence of PC. Potentially actionable somatic mutations (BRCA1, BRCA2, ATM, BRAF, JAK3) were found in 6 (17%) patients. WGS ( n = 5) of EUS samples confirmed mutations identified on panel sequencing and revealed relevant mutational signatures and structural variation patterns that can act as putative biomarkers of therapeutic responsiveness. RNA sequencing ( n = 54) segregated patients into key clinically relevant molecular PC subtypes based on transcriptome and reveals novel molecular insights into advanced, unresectable PC ( n = 38). Conclusions: We demonstrate here novel multi-omic analysis of pancreatic cancer using standard clinical EUS guided fine needle biopsies. Multi-omic analysis of EUS biopsies offers potential clinical utility to guide personalized therapy of PC in both the neoadjuvant and advanced settings.

Type V Bekesy Pattern: Interpretation and Clinical Utility

1967 ◽  
Vol 10 (4) ◽  
pp. 733-744 ◽  
Author(s):  
William F. Rintelmann ◽  
Earl R. Harford
Keyword(s):  
Clinical Utility ◽  
The Past ◽  
Type V ◽  
Clinical Cases

Recent studies indicate there is some disagreement concerning the interpretation and clinical utility of the Type V Bekesy pattern. Bekesy tracings obtained over the past six years from a sample of clinical cases were analyzed and a definition was established for the Type V pattern. This definition was applied to Bekesy tracings obtained from normal listeners, hypoacusics, and pseudohypoacusics. The Type V pattern was found frequently among pseudohypoacusics and only rarely among other individuals.

“I Can See What You’re Saying”: Clinical Utility of Spectral Moment Analysis

2011 ◽  
Vol 21 (2) ◽  
pp. 44-54
Author(s):  
Kerry Callahan Mandulak
Keyword(s):  
Speech Production ◽  
Speech Signal ◽  
Clinical Utility ◽  
Acoustic Analysis ◽  
Moment Analysis ◽  
Analysis Tool ◽  
Spectral Moment ◽  
Clinical Measure ◽  
Perceptual Analysis ◽  
Disordered Speech

Spectral moment analysis (SMA) is an acoustic analysis tool that shows promise for enhancing our understanding of normal and disordered speech production. It can augment auditory-perceptual analysis used to investigate differences across speakers and groups and can provide unique information regarding specific aspects of the speech signal. The purpose of this paper is to illustrate the utility of SMA as a clinical measure for both clinical speech production assessment and research applications documenting speech outcome measurements. Although acoustic analysis has become more readily available and accessible, clinicians need training with, and exposure to, acoustic analysis methods in order to integrate them into traditional methods used to assess speech production.

Staring Down Death

Crisis ◽  
2016 ◽  
Vol 37 (3) ◽  
pp. 212-217 ◽  
Author(s):  
Thomas E. Joiner ◽  
Melanie A. Hom ◽  
Megan L. Rogers ◽  
Carol Chu ◽  
Ian H. Stanley ◽  
...  
Keyword(s):  
Suicide Risk ◽  
Clinical Utility ◽  
Blink Rate ◽  
Specific Task ◽  
Careful Planning ◽  
Eye Blink ◽  
Eye Blinks ◽  
Potential Clinical Utility ◽  
The Relationship

Abstract. Background: Lowered eye blink rate may be a clinically useful indicator of acute, imminent, and severe suicide risk. Diminished eye blink rates are often seen among individuals engaged in heightened concentration on a specific task that requires careful planning and attention. Indeed, overcoming one’s biological instinct for survival through suicide necessitates premeditation and concentration; thus, a diminished eye blink rate may signal imminent suicidality. Aims: This article aims to spur research and clinical inquiry into the role of eye blinks as an indicator of acute suicide risk. Method: Literature relevant to the potential connection between eye blink rate and suicidality was reviewed and synthesized. Results: Anecdotal, cognitive, neurological, and conceptual support for the relationship between decreased blink rate and suicide risk is outlined. Conclusion: Given that eye blinks are a highly observable behavior, the potential clinical utility of using eye blink rate as a marker of suicide risk is immense. Research is warranted to explore the association between eye blink rate and acute suicide risk.

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