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To compare the measurement of aortic diameters using a novel flow-independent MR-Angiography (3D modified Relaxation-Enhanced Angiography without Contrast and Triggering (modified REACT)) and transthoracic echocardiography (TTE) in Marfan syndrome (MFS) patients. This retrospective, single-center analysis included 46 examinations of 32 MFS patients (mean age 37.5 ± 11.3 years, 17 women, no prior aortic surgery) who received TTE and 3D modified REACT (ECG- and respiratory-triggering, Compressed SENSE factor 9 for acceleration of image acquisition) of the thoracic aorta. Aortic diameters (sinus of Valsalva (SV), sinotubular junction (STJ), and ascending aorta (AoA)) were independently measured by two cardiologists in TTE (leading-edge) and two radiologists in modified REACT (inner-edge, using multiplanar reconstruction). Intraclass correlation coefficient, Bland-Altman analyses, and Pearson's correlation (r) were used to assess agreement between observers and methods. Interobserver correlation at the SV, STJ, and AoA were excellent for both, TTE (ICC = 0.95–0.98) and modified REACT (ICC = 0.99–1.00). There was no significant difference between TTE and modified REACT for diameters measured at the SV (39.24 ± 3.24 mm vs. 39.63 ± 3.76 mm; p = 0.26; r = 0.78) and the STJ (35.16 ± 4.47 mm vs. 35.37 ± 4.74 mm; p = 0.552; r = 0.87). AoA diameters determined by TTE were larger than in modified REACT (34.29 ± 5.31 mm vs. 30.65 ± 5.64 mm; p < 0.01; r = 0.74). The mean scan time of modified REACT was 05:06 min ± 02:47 min, depending on the patient's breathing frequency and heart rate. Both TTE and modified REACT showed a strong correlation for all aortic levels; however, at the AoA, diameters were larger using TTE, mostly due to the limited field of view of the latter with measurements being closer to the aortic valve. Given the excellent interobserver correlation and the strong agreement with TTE, modified REACT represents an attractive method to depict the thoracic aorta in MFS patients. • TTE and modified REACT showed excellent interobserver reliability for measurements of the proximal thoracic aorta. • There was a strong correlation for all levels of measurement between TTE and modified REACT. At the SV and STJ there was no significant difference of measured diameters between both techniques whereas at the AoA, diameters were significantly larger using TTE. • Given the high agreement between both techniques, TTE and modified REACT can be used for surveillance of aortic diameters in MFS. [ABSTRACT FROM AUTHOR]

Background: Deficits in the ability to experience reward from natural, substance-free activities and stimuli is a common mechanism contributing to both opiate use disorder and depressive symptoms, and is a target of behavioral-focused treatments for substance use and depression. Although the neural response to monetary, positive affect-eliciting and social images has been investigated, the neural response to images representing substance-free activity engagement remains untested. The current study tested the neural response to anticipation and receipt of substance-free activity engagement images and monetary reward in opiate use disorder patients with elevated depressive symptoms compared to healthy controls.Methods: Sixteen male opiate use disorder detoxification patients with elevated depressive symptoms (Beck Depression Inventory (BDI-II) ≥ 14) (OUDD Mage = 32.19 years, SD = 8.17 years) and seventeen male healthy controls (BDI-II < 14) (HC: Mage = 26.82 years, SD = 5.29 years) completed the Monetary Incentive Delay (MID) and newly developed Activity Incentive Delay (AID) tasks. Within- and between-group whole-brain contrasts tested activation during anticipation ([reward]-[non-reward]) and receipt ([win]-[non-win]) of substance-free activity image, monetary, and substance-free activity relative to monetary (AID-MID), reward.Results: OUDD demonstrated significantly lower activation in reward regions during anticipation and significantly greater activation during receipt of substance-free activity image reward compared to HC. OUDD demonstrated significantly lower activation during anticipation of substance-free activity reward relative to monetary reward, compared to HC.Conclusions: The observed reduction in frontostriatal response to reward anticipation of substance-free activity engagement images in OUDD, yet increased neural response to reward receipt, supports theory linking reductions in reward processing with deficits in motivation for substance-free activity engagement. [ABSTRACT FROM AUTHOR]

Abstract: Primary autosomal recessive microcephaly (MCPH) is a genetically heterogeneous condition characterized by congenital microcephaly and intellectual disability. To date, 10 MCPH loci have been identified and due to the genetic heterogeneity of this condition, molecular testing for MCPH can be complicated. Our methods involved employing a next generation sequencing panel of MCPH-related genes allowing for the evaluation of multiple disease loci simultaneously. Next generation sequencing analysis of a 6year old female with primary microcephaly identified novel compound heterozygous mutations (c.524_528del and c.4005-1G>A) in the CDK5RAP2 gene. A review of the published literature to date reveals that only three mutations have been previously reported in the CDK5RAP2 gene in the homozygous state in three Northern Pakistani and one Somali consanguineous MCPH families. Our patient represents the first non-consanguineous Caucasian individual to have been identified with CDK5RAP2-related MCPH. As only a handful of patients have been reported in the literature with CDK5RAP2-related MCPH, we anticipate the identification of individuals with CDK5RAP2 mutations from all ethnic backgrounds will continue. Our patient contributes to the ethnic and genotypic spectrum of CDK5RAP2-related MCPH and supports the occurrence of this genetic condition beyond that of consanguineous families of certain ethnic populations. Our results also highlight the utility of multi-gene sequencing panels to elucidate the etiology of genetically heterogeneous conditions. [Copyright &y& Elsevier]

William's syndrome is a genetic disorder that is associated with a spectrum of cardiovascular disease: congenital heart disease, vascular disease, coronary artery disease, hypertension and arrhythmias. Patients may be at risk of significant morbidity and mortality over their lifetime including a risk of sudden cardiac arrest. Williams syndrome patients may develop progressive multi-site arterial stenosis, systemic hypertension, valve dysplasia, and arrhythmias with advancing age. They should always be considered at risk of having underlying coronary disease prior to anesthesia. Standard screening includes a comprehensive physical exam, electrocardiogram, and echocardiogram; however advanced cardiac imaging with computed tomography and/or magnetic resonance angiography may be beneficial to fully assess the vascular tree. We will review a systematic approach for clinicians caring for Williams syndrome patients to use for the detection of overt and subclinical forms of cardiovascular disease, especially prior to procedures requiring general anesthesia. • Williams syndrome comprehensive cardiovascular screening • Advanced cardiac imaging is beneficial • Williams syndrome patients who are undergoing anesthesia should be assumed to have risk of coronary disease. [ABSTRACT FROM AUTHOR]