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Introduction: Cigarette smoking is one of the largest causes of preventable death worldwide. This study aimed to identify susceptibility loci for age at smoking initiation (ASI) by performing an exome-wide association analysis.Methods: A total of 2510 smokers of either African-American (AA) or European-American (EA) origin were genotyped and analyzed at both the single nucleotide polymorphism (SNP) and gene levels. After removal of those SNPs with a minor allele frequency (<0.01), 48091 and 34933 SNPs for AAs and EAs, respectively, were used to conduct a SNP-based association analysis. Gene-based analyses were then performed for all SNPs examined within each gene. Further, we estimated the proportion of variance explained by all common SNPs included in the analysis.Results: The strongest signals were detected for SNPs rs17849904 in the pitrilysin metallopeptidase 1 gene (PITRM1) in the AA sample (p = 9.02 × 10-7) and rs34722354 in the discoidin domain of the receptor tyrosine kinase 2 gene (DDR2) in the EA sample (p = 9.74 × 10-7). Both SNPs remained significant after Bonferroni correction for the number of SNPs tested. Subsequently, the gene-based association analysis revealed a significantly associated gene, DHRS7, in the AA sample (p = 5.00 × 10-6), a gene previously implicated in nicotine metabolism.Conclusions: Our study revealed two susceptibility loci for age of smoking initiation in the two ethnic samples, with the first being PITRM1 for AA smokers and the second DDR2 for EA smokers. In addition, we found DHRS7 to be a plausible candidate for ASI in the AA sample from our gene-based association analysis.Implications: PITRM1 and DHRS7 for African-American smokers and DDR2 for European-American smokers are new candidate genes for smoking initiation. These genes represent new additions to smoking initiation, an important but less studied phenotype in nicotine dependence research. [ABSTRACT FROM AUTHOR]

Marfan syndrome (MFS) is a systemic connective tissue disease that commonly and most severely affects the ocular, skeletal, and cardiovascular systems. The aim of the manuscript is to review the aortic involvement and complications in MFS, including aortal dissection, thoracic aortic aneurysm, abdominal aortic aneurysm, and acute aortic syndrome. Dissecting thoracic aortic aneurysm and progressing aortic root enlargement are the major causes of MFS morbidity and mortality. Guidelines on aortic disease endorsed by the American College of Cardiology, and the American Heart Association recommend the measurement of the external and internal aortic diameters perpendicular to the axis of blood flow when Computed Tomography, or Magnetic Resonance Imaging, or Cardiac Echography are performed. The pathophysiology, diagnosis, prevention, and medical and surgical treatments of MFS associated with aortic complications are reported in this narrative review. Development and strengthening of centers specialized in cardiovascular diseases and MFS, together with an improvement in the knowledge of its pathogenesis through genetics and proteomics investigations, can ameliorate the prognosis of this disease.

Background: There is a paucity of data on the contemporary outcomes and trends of elective thoracic aortic aneurysm repair and aneurysm-associated acute aortic syndrome.Methods: We queried the National Inpatient Sample (NIS) database years 2012-2016 to identify hospitalizations for elective thoracic aortic aneurysm repair and aneurysm-associated acute aortic syndrome. The main study outcome was in-hospital mortality.Results: The analysis yielded 24,295 hospitalizations for elective thoracic aortic aneurysm repair and 8875 hospitalizations for aneurysm-associated acute aortic syndrome. The number of hospitalizations for elective aortic repair significantly increased from 4375 in 2012 to 5450 in 2016 (Ptrend = .01). The number of hospitalizations for acute aortic syndrome numerically increased from 1545 in 2012 to 2340 in 2016 (Ptrend = .10). Overall in-hospital mortality for elective aortic repair was 2.4% with no change over time. In-hospital mortality for acute aortic rupture was 39.4% and for acute aortic dissection was 6.2% with no change over time. Hospitalizations for elective aortic repair had lower incidence of complications compared with those for aneurysm-associated acute aortic syndrome, including cardiogenic shock, cardiac arrest, acute stroke, and shorter length of stay. Factors associated with higher mortality among admissions undergoing elective aortic repair included older age, heart failure, valvular disease, and chronic kidney disease. Older age, coagulopathy, and fluid/ electrolytes disorders were associated with increased mortality among those with acute aortic syndrome.Conclusion: Contemporary elective thoracic aortic aneurysm repair is associated with lower in-hospital mortality and morbidity when compared with a clinical presentation for an aneurysm-associated acute aortic syndrome. This should be taken into account when deciding the timing of elective aortic aneurysm repair and balancing the risks and benefits. [ABSTRACT FROM AUTHOR]

Acute aortic syndrome (AAS) includes the entities of acute aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer. AAS typically presents with sudden onset of severe, tearing, anterior, or interscapular back pain. Symptoms may be dominated by malperfusion syndrome, due to obstruction of the lumen of the aorta and/or a side branch when the intimal and medial layers are separated. Timely diagnosis of AAS is crucial to permit prompt management; for example, early mortality rates are reported to be 1% to 2% per hour after the onset of symptoms for untreated ascending aortic dissection. The appropriateness assigned to each imaging procedure was based on the ability to obtain key information that is used to plan open surgical, endovascular, or medical therapy. This includes, but is not limited to, confirming the presence of AAS; classification; characterization of entry and reentry sites; false lumen patency; and branch vessel compromise. Using this approach, CT, CTA, and MRA are all considered usually appropriate in the initial evaluation of AAS if those procedures include intravenous contrast administration. Ultrasound is also considered usually appropriate if the acquisition is via a transesophageal approach. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment., (Copyright © 2021 American College of Radiology. Published by Elsevier Inc. All rights reserved.)