A survey of aortic disease biorepository participants’ preferences for return of research genetic results

Background: Numerous studies indicate that statins have multiple beneficial actions (known as ‘pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, excessive arterial thrombosis, and stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation. Many studies have revealed the cardioprotective actions of statins in aortic disease. Objective: Our aim was to present current data concerning the value of treatment with statins in aortic diseases. Methods: A thorough search of PubMed and the Cochrane Database was conducted to identify the studies and novel articles related to the use of statins in aortic disease. Results: Numerous studies in animals and humans indicate a beneficial effect of treatment with statins in the previous conditions apart from a few conflicting data. Conclusion: There is a need of further investigation in this field, especially for the estimation of the optimal type and dose of statins required in each clinical condition of aortic disease.

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MicroRNAs in Aortic Disease

Current Topics in Medicinal Chemistry ◽

10.2174/15680266113139990105 ◽

2013 ◽

Vol 13 (13) ◽

pp. 1559-1572 ◽

Cited By ~ 6

Author(s):

Manolis Vavuranakis ◽

Maria Kariori ◽

Dimitrios Vrachatis ◽

Konstantinos Aznaouridis ◽

Gerasimos Siasos ◽

...

Keyword(s):

Aortic Disease

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Aortic Stenosis, Aortic Regurgitation and Arterial Hypertension

Current Vascular Pharmacology ◽

10.2174/1570161116666180101165306 ◽

2019 ◽

Vol 17 (2) ◽

pp. 180-190 ◽

Cited By ~ 3

Author(s):

V. Katsi ◽

G. Georgiopoulos ◽

D. Oikonomou ◽

C. Aggeli ◽

C. Grassos ◽

...

Keyword(s):

Aortic Valve ◽

Aortic Stenosis ◽

Aortic Regurgitation ◽

Antihypertensive Agents ◽

Renin Angiotensin System ◽

Aortic Disease ◽

Review Of The Literature ◽

Angiotensin System ◽

The Impact ◽

Worse Prognosis

Background: Hypertension (HT) is an important risk factor for cardiovascular disease and might precipitate pathology of the aortic valve. Objective: To investigate the association of HT with aortic dysfunction (including both aortic regurgitation and stenosis) and the impact of antihypertensive treatment on the natural course of underlying aortic disease. Methods: We performed a systematic review of the literature for all relevant articles assessing the correlation between HT and phenotype of aortic disease. Results: Co-existence of HT with aortic stenosis and aortic regurgitation is highly prevalent in hypertensive patients and predicts a worse prognosis. Certain antihypertensive agents may improve haemodynamic parameters (aortic jet velocity, aortic regurgitation volume) and remodeling of the left ventricle, but there is no strong evidence of benefit regarding clinical outcomes. Renin-angiotensin system inhibitors, among other vasodilators, are well-tolerated in aortic stenosis. Conclusion: Several lines of evidence support a detrimental association between HT and aortic valve disease. Therefore, HT should be promptly treated in aortic valvulopathy. Despite conventional wisdom, specific vasodilators can be used with caution in aortic stenosis.

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Abdominal Aortic Disease: A Multicase Review

Journal for Vascular Ultrasound ◽

10.1177/1544316719829602 ◽

2019 ◽

Vol 43 (1) ◽

pp. 18-24

Author(s):

Joshua D. Lee ◽

Courtney Webb ◽

Mark W. Fugate

Keyword(s):

Patient Care ◽

Iliac Artery ◽

Endovascular Aneurysm Repair ◽

Artery Aneurysm ◽

Disease Diagnosis ◽

Aortic Disease ◽

Type I ◽

Abdominal Aortic ◽

Type I Endoleak ◽

Vascular Laboratory

Abdominal aortic disease affects more than 3 million people per year. For vascular sonographers, imaging aortic disease can become routine. Therefore, it is necessary to expand the knowledge that we have of aortic disease, diagnosis, and treatment. We present 4 cases with new or worsening conditions diagnosed by duplex ultrasound (DUS). Our first case is a 79-year-old woman returning for surveillance of an endovascular aneurysm repair (EVAR). The DUS findings reveal an increasing abdominal aortic aneurysm (AAA) sac, with evidence of flow originating from an incomplete seal at the attachment suggesting type I endoleak. Next, is a 56-year-old man returning 1 month after type A dissection repair, now presenting with unilateral claudication. The DUS findings of the left lower extremity demonstrated an early systolic deceleration waveform, suggesting more proximal disease. Upon further imaging, an abdominal aortic dissection was identified terminating into the left internal iliac artery, causing the true lumen to be compressed. The third case was a 75-year-old man returning for follow-up of an EVAR and iliac repair. The DUS findings show an increase in iliac artery sac size and anechoic area that was filled with color Doppler flow. These findings are suggestive of type I endoleak involving the distal attachment. The last case is a 56-year-old man returning for EVAR and iliac artery repair surveillance. The common iliac artery aneurysm sac had increased in diameter and length. The distal attachment of the left iliac extension cuff terminated within the aneurysm sac, causing a type I endoleak. Accurate DUS diagnosis of aortic disease is crucial for patient care. Meticulous analysis of the vessels and surrounding structures can make a difference in diagnostic outcomes. Vascular sonographers should continually review and revise vascular laboratory protocols to increase their diagnostic accuracy and improve patient care. It is important to extend the vascular laboratory protocols when complex cases arise to better demonstrate complicated diagnoses and challenging anatomy.

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157 18F-sodium fluoride positron emission tomography, aortic disease activity and ischaemic stroke risk

10.1136/heartjnl-2021-bcs.154 ◽

2021 ◽

Author(s):

Alexander Fletcher ◽

Evangelos Tzolos ◽

Shruti Joshi ◽

Jacek Kwiecinski ◽

Rong Bing ◽

...

Keyword(s):

Positron Emission Tomography ◽

Ischaemic Stroke ◽

Disease Activity ◽

Sodium Fluoride ◽

Stroke Risk ◽

Aortic Disease ◽

Emission Tomography ◽

Positron Emission

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Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽

10.1055/s-0040-1719059 ◽

2020 ◽

Vol 04 (02) ◽

pp. e132-e135

Author(s):

Luke V. Rasmussen ◽

Christin Hoell ◽

Maureen E. Smith ◽

Rex Chisholm ◽

Justin Starren ◽

...

Keyword(s):

Genetic Research ◽

Lessons Learned ◽

Return Of Results ◽

Patient Portal ◽

Test Results ◽

Research Results ◽

Genetic Test Results ◽

Future Return ◽

New Research ◽

Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

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Radial self-navigated native magnetic resonance angiography in comparison to navigator-gated contrast-enhanced MRA of the entire thoracic aorta in an aortic patient collective

Journal of Cardiovascular Magnetic Resonance ◽

10.1186/s12968-021-00774-9 ◽

2021 ◽

Vol 23 (1) ◽

Author(s):

Martina Correa Londono ◽

Nino Trussardi ◽

Verena C. Obmann ◽

Davide Piccini ◽

Michael Ith ◽

...

Keyword(s):

Magnetic Resonance ◽

Image Quality ◽

Magnetic Resonance Angiography ◽

Thoracic Aorta ◽

Aortic Root ◽

Aortic Disease ◽

Ascending Aorta ◽

Scan Time ◽

Contrast Enhanced

Abstract Background The native balanced steady state with free precession (bSSFP) magnetic resonance angiography (MRA) technique has been shown to provide high diagnostic image quality for thoracic aortic disease. This study compares a 3D radial respiratory self-navigated native MRA (native-SN-MRA) based on a bSSFP sequence with conventional Cartesian, 3D, contrast-enhanced MRA (CE-MRA) with navigator-gated respiration control for image quality of the entire thoracic aorta. Methods Thirty-one aortic native-SN-MRA were compared retrospectively (63.9 ± 10.3 years) to 61 CE-MRA (63.1 ± 11.7 years) serving as a reference standard. Image quality was evaluated at the aortic root/ascending aorta, aortic arch and descending aorta. Scan time was recorded. In 10 patients with both MRA sequences, aortic pathologies were evaluated and normal and pathologic aortic diameters were measured. The influence of artifacts on image quality was analyzed. Results Compared to the overall image quality of CE-MRA, the overall image quality of native-SN-MRA was superior for all segments analyzed (aortic root/ascending, p < 0.001; arch, p < 0.001, and descending, p = 0.005). Regarding artifacts, the image quality of native-SN-MRA remained superior at the aortic root/ascending aorta and aortic arch before and after correction for confounders of surgical material (i.e., susceptibility-related artifacts) (p = 0.008 both) suggesting a benefit in terms of motion artifacts. Native-SN-MRA showed a trend towards superior intraindividual image quality, but without statistical significance. Intraindividually, the sensitivity and specificity for the detection of aortic disease were 100% for native-SN-MRA. Aortic diameters did not show a significant difference (p = 0.899). The scan time of the native-SN-MRA was significantly reduced, with a mean of 05:56 ± 01:32 min vs. 08:51 ± 02:57 min in the CE-MRA (p < 0.001). Conclusions Superior image quality of the entire thoracic aorta, also regarding artifacts, can be achieved with native-SN-MRA, especially in motion prone segments, in addition to a shorter acquisition time.

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Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

Applied Clinical Informatics ◽

10.1055/s-0040-1718753 ◽

2020 ◽

Vol 11 (05) ◽

pp. 755-763

Author(s):

Shibani Kanungo ◽

Jayne Barr ◽

Parker Crutchfield ◽

Casey Fealko ◽

Neelkamal Soares

Keyword(s):

Genetic Testing ◽

Best Practices ◽

Health Care Providers ◽

Genetic Information ◽

Ethical Issues ◽

Interdisciplinary Approach ◽

Care Providers ◽

Ethical Considerations ◽

Electronic Health ◽

Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

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K-seq, an affordable, reliable, and open Klenow NGS-based genotyping technology

Plant Methods ◽

10.1186/s13007-021-00733-6 ◽

2021 ◽

Vol 17 (1) ◽

Author(s):

Peio Ziarsolo ◽

Tomas Hasing ◽

Rebeca Hilario ◽

Victor Garcia-Carpintero ◽

Jose Blanca ◽

...

Keyword(s):

Cost Effective ◽

Genetic Distances ◽

Set Design ◽

Special Equipment ◽

Genetic Studies ◽

Set Up ◽

Genomic Regions ◽

Biology Laboratory ◽

Genotyping Technology ◽

Genetic Results

Abstract Background K-seq, a new genotyping methodology based on the amplification of genomic regions using two steps of Klenow amplification with short oligonucleotides, followed by standard PCR and Illumina sequencing, is presented. The protocol was accompanied by software developed to aid with primer set design. Results As the first examples, K-seq in species as diverse as tomato, dog and wheat was developed. K-seq provided genetic distances similar to those based on WGS in dogs. Experiments comparing K-seq and GBS in tomato showed similar genetic results, although K-seq had the advantage of finding more SNPs for the same number of Illumina reads. The technology reproducibility was tested with two independent runs of the tomato samples, and the correlation coefficient of the SNP coverages between samples was 0.8 and the genotype match was above 94%. K-seq also proved to be useful in polyploid species. The wheat samples generated specific markers for all subgenomes, and the SNPs generated from the diploid ancestors were located in the expected subgenome with accuracies greater than 80%. Conclusion K-seq is an open, patent-unencumbered, easy-to-set-up, cost-effective and reliable technology ready to be used by any molecular biology laboratory without special equipment in many genetic studies.

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